006 Kell Blood Group
The Kell blood group system consists of 32 antigens carried on a type II glycoprotein (aka CD238) of 732 amino acids. The Kell glycoprotein is a zinc-dependent metalloproteinase that has been shown to have endothelin-3-converting activity.
Antigens
[1] K
[2] k
[3] Kpa
[4] Kpb
[5] Ku
[6] Jsa
[7] Jsb
[8] …
[9] …
[10] Ula
[11] K11
[12] K12
[13] K13
[14] K14
[15] …
[16] K16
[17] K17
[18] K18
[19] K19
[20] Km
[21] Kpc
[22] K22
[23] K23
[24] K24
[25] VLAN
[26] TOU
[27] RAZ
[28] VONG
[29] KALT
[30] KTIM
[31] KYO
[32] KUCI
[33] KANT
[34] KASH
[35] KELP
[36] KETI
[37] KHUL
[38] KYOR
[39] KEAL
Reference Info
Gene: KEL
Allele: KEL*02. Acceptable: k if inferred by haemagglutination
Seq: NG_007492.1 (genomic), NM_000420.2 (transcript)
Entrez GeneID: 3792
Number of exons: 19
Allele: KEL*02. Acceptable: k if inferred by haemagglutination
Seq: NG_007492.1 (genomic), NM_000420.2 (transcript)
Entrez GeneID: 3792
Number of exons: 19
Loading Data ... |
allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
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0:Antigen Alleles |
KEL:1,−2 or K+ k− |
KEL*01.01 | c.578C>T | Exon 6 | p.Thr193Met | chr7:142957921 | ||||
0:Antigen Alleles |
KEL:1weak or K+w |
KEL*01.02 | c.577A>T | Exon 6 | p.Thr193Ser | chr7:142957922 | ||||
0:Antigen Alleles |
KEL:1weak,3 or K+w, Kp(a+) |
KEL*01.03 |
c.578C>T c.841C>T |
Exon 6
Exon 8 |
p.Thr193Met p.Arg281Trp |
chr7:142957921 chr7:142954267 |
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2:Mod Alleles | Kmod; KEL:1weak | KEL*01M.01 | c.578C>G | Exon 6 | p.Thr193Arg | chr7:142957921 |
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2:Mod Alleles | Kmod | KEL*01M.02 |
c.578C>T c.977C>T |
Exon 6
Exon 9 |
p.Thr193Met p.Pro326Leu |
chr7:142957921 chr7:142953904 |
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2:Mod Alleles | Kmod | KEL*01M.03 |
c.578C>T c.1339C>T c.1680A>C |
Exon 6
Exon 12 Exon 15 |
p.Thr193Met p.Arg447Trp p.Pro560Pro |
chr7:142957921 chr7:142944717 chr7:142943509 |
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2:Mod Alleles | Kmod | KEL*01M.04 |
c.578C>T c.1920G>C c.1921G>A |
Exon 6
Exon 17 Exon 17 |
p.Thr193Met p.Gly640Gly p.Gly641Arg |
chr7:142957921 chr7:142942896 chr7:142942895 |
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2:Mod Alleles | Kmod | KEL*01M.05 |
c.578C>T c.1899A>G c.1934C>T |
Exon 6
Exon 17 Exon 17 |
p.Thr193Met p.Leu633Leu p.Ala645Val |
chr7:142957921 chr7:142942917 chr7:142942882 |
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2:Mod Alleles | Kmod | KEL*01M.06 |
c.578C>T c.1680A>C c.2107G>C |
Exon 6
Exon 15 Exon 19 |
p.Thr193Met p.Pro560Pro p.Gly703Arg |
chr7:142957921 chr7:142943509 chr7:142941344 |
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4:Null Alleles | K0 | KEL*01N.01 |
c.578C>T c.1678C>G |
Exon 6
Exon 15 |
p.Thr193Met p.Pro560Ala |
chr7:142957921 chr7:142943511 |
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4:Null Alleles | K0 | KEL*01N.02 |
c.244T>C c.578C>T |
Exon 4
Exon 6 |
p.Cys82Arg p.Thr193Met |
chr7:142961084 chr7:142957921 |
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4:Null Alleles | K0 | KEL*01N.03 | c.1382_1385del4 | Exon 12 | p.Asn461Argfs*25 | chr7:142944674 |
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0:Antigen Alleles | KEL:2 or k+ | KEL*02 | ||||||||
0:Antigen Alleles | KEL: -12 | KEL*02.-12 | c.1643A>G | Exon 15 | p.His548Arg | chr7:142943546 | ||||
0:Antigen Alleles | KEL:-14,-24 | KEL*02.-14.1 | c.538C>T | Exon 6 | p.Arg180Cys | chr7:142957961 | ||||
0:Antigen Alleles | KEL:-14 | KEL*02.-14.2 | c.539G>A | Exon 6 | p.Arg180His | chr7:142957960 | ||||
0:Antigen Alleles | KEL:-18 | KEL*02.-18.1 | c.388C>T | Exon 4 | p.Arg130Trp | chr7:142960940 | ||||
0:Antigen Alleles | KEL:-18 | KEL*02.-18.2 | c.389G>A | Exon 4 | p.Arg130Gln | chr7:142960939 | ||||
0:Antigen Alleles | KEL:-19 | KEL*02.-19 | c.1475G>A | Exon 13 | p.Arg492Gln | chr7:142944339 | ||||
0:Antigen Alleles | KEL:-22 | KEL*02.-22 | c.965C>T | Exon 9 | p.Ala322Val | chr7:142953916 | ||||
0:Antigen Alleles | KEL:-26 | KEL*02.-26 | c.1217G>A | Exon 11 | p.Arg406Gln | chr7:142946304 | ||||
0:Antigen Alleles | KEL:-27 | KEL*02.-27 | c.745G>A | Exon 8 | p.Glu249Lys | chr7:142954363 | ||||
0:Antigen Alleles | KEL:-29 | KEL*02.-29 | c.1868G>A | Exon 17 | p.Arg623Lys | chr7:142942948 | ||||
0:Antigen Alleles | KEL:-30 | KEL*02.-30 | c.913G>A | Exon 8 | p.Asp305Asn | chr7:142954195 | ||||
0:Antigen Alleles | KEL:-32 | KEL*02.-32 | c.1271C>T | Exon 11 | p.Ala424Val | chr7:142946250 | ||||
0:Antigen Alleles | KEL:-33 | KEL*02.-33 | c.1283G>T | Exon 11 | p.Arg428Leu | chr7:142946238 |
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0:Antigen Alleles | KEL:-34 | KEL*02.-34 | c.758A>G | Exon 8 | p.Tyr253Cys | chr7:142954350 |
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0:Antigen Alleles | KEL:-35 | KEL*02.-35 |
c.780G>T c.2024G>A |
Exon 8
Exon 18 |
p.Leu260Phe p.Arg675Gln |
chr7:142954328 chr7:142942447 |
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0:Antigen Alleles | KEL:-36 | KEL*02.-36 | c.1391C>T | Exon 12 | p.Thr464Ile | chr7:142944665 | ||||
0:Antigen Alleles | KEL:-37 | KEL*02.-37 | c.877C>T | Exon 8 | p.Arg293Trp | chr7:142954231 | ||||
0:Antigen Alleles | KEL:3,−4,−21 or Kp(a+b-c-) | KEL*02.03 | c.841C>T | Exon 8 | p.Arg281Trp | chr7:142954267 | ||||
0:Antigen Alleles | KEL:6,-7 or Js(a+b-) | KEL*02.06 | c.1790T>C | Exon 17 | p.Leu597Pro | chr7:142943026 | ||||
0:Antigen Alleles | KEL:10 | KEL*02.10 | c.1481A>T | Exon 13 | p.Glu494Val | chr7:142944333 | ||||
0:Antigen Alleles | KEL: -11,17 | KEL*02.17 | c.905T>C | Exon 8 | p.Val302Ala | chr7:142954203 | ||||
0:Antigen Alleles | KEL:-3,-4,21 or Kp(a-b-c+) | KEL*02.21 | c.842G>A | Exon 8 | p.Arg281Gln | chr7:142954266 | ||||
0:Antigen Alleles | KEL:23 | KEL*02.23 | c.1145A>G | Exon 10 | p.Gln382Arg | chr7:142952567 |
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0:Antigen Alleles | KEL: -14,24 | KEL*02.24 | c.539G>C | Exon 6 | p.Arg180Pro | chr7:142957960 | ||||
0:Antigen Alleles | KEL:25,-28 | KEL*02.25 | c.743G>A | Exon 8 | p.Arg248Gln | chr7:142954365 | ||||
0:Antigen Alleles | KEL:-25,28 | KEL*02.28 | c.742C>T | Exon 8 | p.Arg248Trp | chr7:142954366 | ||||
0:Antigen Alleles | KEL:31,-38 | KEL*02.31 | c.875G>A | Exon 8 | p.Arg292Gln | chr7:142954233 | ||||
0:Antigen Alleles | KEL:-37,39 or KHUL-,KEAL+ | KEL*02.39 | c.877C>T | Exon 8 | p.Arg293Trp | chr7:142954231 | ||||
0:Antigen Alleles | KEL:40 | KEL*02.40 | c.1546C>A | Exon 14 | p.Arg516Arg | chr7:142943829 |
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2:Mod Alleles | Kmod | KEL*02M.01 | c.1088G>A | Exon 10 | p.Ser363Asn | chr7:142952624 | ||||
2:Mod Alleles | Kmod | KEL*02M.02 | c.2030A>G | Exon 18 | p.Tyr677Cys | chr7:142942441 | ||||
2:Mod Alleles | Kmod KEL:-13 | KEL*02M.03 | c.986T>C | Exon 9 | p.Leu329Pro | chr7:142953895 | ||||
2:Mod Alleles | Kmod | KEL*02M.04 | c.2107G>A | Exon 19 | p.Gly703Arg | chr7:142941344 | ||||
2:Mod Alleles | Kmod | KEL*02M.05 | c.1719C>T | Exon 16 | p.Gly573= | chr7:142943328 | ||||
2:Mod Alleles | Kmod | KEL*02M.06 |
c.306C>A c.1298C>T |
Exon 4
Exon 11 |
p.Asp102Glu p.Pro433Leu |
chr7:142961022 chr7:142946223 |
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2:Mod Alleles | Kmod | KEL*02M.07 | c.1763A>G | Exon 16 | p.Tyr588Cys | chr7:142943284 |
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2:Mod Alleles | Kmod | KEL*02M.08 | c.1490A>T | Exon 13 | p.Asp497Val | chr7:142944324 | ||||
2:Mod Alleles | Kmod | KEL*02M.09 | c.1757T>G | Exon 16 | p.Ile586Ser | chr7:142943290 |
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2:Mod Alleles | Kmod | KEL*02M.10 | c.787G>A | Exon 8 | p.Gly263Arg | chr7:142954321 |
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2:Mod Alleles | Kmod | KEL*02M.11 | c.1268C>T | Exon 11 | p.Ala423Val | chr7:142946253 | ||||
2:Mod Alleles | Kmod | KEL*02M.12 | c.2111C>A | Exon 19 | p.Pro704His | chr7:142941340 | ||||
2:Mod Alleles | Kmod | KEL*02M.13 |
c.257G>A c.841C>T |
Exon 4
Exon 8 |
p.Arg86Gln p.Arg281Trp |
chr7:142961071 chr7:142954267 |
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2:Mod Alleles | Kmod | KEL*02M.14 | c.1084C>A | Exon 10 | p.Gln362Lys | chr7:142952628 | ||||
2:Mod Alleles | Kmod | KEL*02M.15 | c.575G>C | Exon 6 | p.Arg192Pro | chr7:142957924 | ||||
2:Mod Alleles | Kmod | KEL*02M.16 | c.788G>A | Exon 8 | p.Gly263Glu | chr7:142954320 |
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2:Mod Alleles | Kmod | KEL*02M.17 | c.586C>G | Exon 6 | p.Leu196Val | chr7:142957913 |
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2:Mod Alleles | Kmod | KEL*02M.18 | c.1664G>T | Exon 15 | p.Gly555Val | chr7:142943525 |
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4:Null Alleles | K0 | KEL*02N.01 | c.223+1G>C | Intron 3 | p.Arg75fs*? | chr7:142961359 |
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4:Null Alleles | K0 | KEL*02N.02 |
c.382C>T c.1790T>C |
Exon 4
Exon 17 |
p.Arg128Ter |
chr7:142960946 chr7:142943026 |
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4:Null Alleles | K0 | KEL*02N.03 | c.246T>A | Exon 4 | p.Cys82* | chr7:142961082 | ||||
4:Null Alleles | K0 | KEL*02N.04 | c.1042C>T | Exon 9 | p.Gln348* | chr7:142953839 |
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4:Null Alleles | K0 | KEL*02N.05 | c.2027G>A | Exon 18 | p.Ser676Asn | chr7:142942444 |
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4:Null Alleles | K0 | KEL*02N.06 | c.223+1G>A | Intron 3 | p.Arg75fs | chr7:142961359 | ||||
4:Null Alleles | K0 | KEL*02N.07 | c.574C>T | Exon 6 | p.Arg192* | chr7:142957925 | ||||
4:Null Alleles | K0 | KEL*02N.08 | c.526-2A>G | Intron 5 | Alternative splicing | chr7:142957975 |
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4:Null Alleles | K0 | KEL*02N.09 | c.1377G>A | Exon 12 | p.Trp459* | chr7:142944679 |
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4:Null Alleles | K0 | KEL*02N.10 | c.1420C>T | Exon 13 | p.Gln474* | chr7:142944394 | ||||
4:Null Alleles | K0 | KEL*02N.11 | c.904delG | Exon 8 | p.Val302Serfs*28 | chr7:142954204 |
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4:Null Alleles | K0 | KEL*02N.12 | c.924+1G>A | Intron 8 | Alternative splicing | chr7:142954183 | ||||
4:Null Alleles | K0 | KEL*02N.13 | c.924+1G>T | Intron 8 | Alternative splicing | chr7:142954183 | ||||
4:Null Alleles | K0 | KEL*02N.14 | c.948G>A | Exon 9 | p.Trp316* | chr7:142953933 |
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4:Null Alleles | K0 | KEL*02N.15 | c.1216C>T | Exon 11 | p.Arg406* | chr7:142946305 | ||||
4:Null Alleles | K0 | KEL*02N.16 | c.1477C>T | Exon 13 | p.Gln493* | chr7:142944337 | ||||
4:Null Alleles | K0 | KEL*02N.17 | c.1546C>T | Exon 14 | p.Arg516* | chr7:142943829 | ||||
4:Null Alleles | K0 | KEL*02N.18 | c.1678C>G | Exon 15 | p.Pro560Ala | chr7:142943511 |
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4:Null Alleles | K0 | KEL*02N.19 | c.2023C>T | Exon 18 | p.Arg675* | chr7:142942448 | ||||
4:Null Alleles | K0 | KEL*02N.20 | c.1596G>A | Exon 15 | p.Trp532* | chr7:142943593 |
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4:Null Alleles | K0 | KEL*02N.21 | c.1947C>G | Exon 18 | p.Tyr649* | chr7:142942524 | ||||
4:Null Alleles | K0 | KEL*02N.22 | c.736-1G>C | Intron 7 | Alternative splicing | chr7:142954373 | ||||
4:Null Alleles | K0 | KEL*02N.23 | c.184dupT | Exon 3 | p.Ser62Phefs*17 | chr7:142961399 |
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4:Null Alleles | K0 | KEL*02N.24 | c.715G>T | Exon 7 | p.Glu239* | chr7:142954485 | ||||
4:Null Alleles | K0 | KEL*02N.25 | c.1975delG | Exon 18 | p.Glu659Argfs*22 | chr7:142942496 |
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4:Null Alleles | K0 | KEL*02N.26 | c.382C>T | Exon 4 | p.Arg128* | chr7:142960946 | ||||
4:Null Alleles | K0 | KEL*02N.27 | c.730delG | Exon 7 | p.Ala244Profs*8 | chr7:142954470 |
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4:Null Alleles | K0 | KEL*02N.28 | c.230G>T | Exon 4 | p.Cys77Phe | chr7:142961098 |
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4:Null Alleles | K0 | KEL*02N.29 | c.1664G>A | Exon 15 | p.Gly555Glu | chr7:142943525 |
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4:Null Alleles | K0 | KEL*02N.30 | c.71G>A | Exon 2 | p.Trp24* | chr7:142961805 | ||||
4:Null Alleles | K0 | KEL*02N.31 | c.1771+1g>a | Intron 16 | Aberrant splicing | chr7:142943275 |
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4:Null Alleles | K0 | KEL*02N.32 | c.455A>G | Exon 5 | p.Tyr152Cys | chr7:142958374 |
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4:Null Alleles | K0 | KEL*02N.33 | c.1726G>C | Exon 16 | p.Gly576Arg | chr7:142943321 | ||||
4:Null Alleles | K0 | KEL*02N.34 |
c.841C>T c.2099G>A |
Exon 8
Exon 19 |
p.Arg281Trp p.Arg700Gln |
chr7:142954267 chr7:142941352 |
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4:Null Alleles | K0 | KEL*02N.35 | c.398T>C | Exon 4 | p.Leu133Pro | chr7:142960930 |
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4:Null Alleles | K0 | KEL*02N.36 | c.436delG | Exon 5 | p.Glu146Argfs*43 | chr7:142958393 |
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4:Null Alleles | K0 | KEL*02N.37 | c.1253T>C | Exon 11 | p.Phe418Ser | chr7:142946268 |
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4:Null Alleles | K0 | KEL*02N.38 | c.1832T>G | Exon 17 | p.Leu611Arg | chr7:142942984 |
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4:Null Alleles | K0 | KEL*02N.39 | c.2098C>T | Exon 19 | p.Arg700* | chr7:142941353 |
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4:Null Alleles | K0 | KEL*02N.40 | c.1474C>T | Exon 13 | p.Arg492* | chr7:142944340 |
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4:Null Alleles | K0 | KEL*02N.41 | c.267C>G | Exon 4 | p.Tyr89* | chr7:142961061 |
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4:Null Alleles | K0 | KEL*02N.42 | c.299G>C | Exon 4 | p.Cys100Ser | chr7:142961029 |
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4:Null Alleles | K0 | KEL*02N.43 | c.328delA | Exon 4 | p.Arg110Glyfs*79 | chr7:142961000 |
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4:Null Alleles | K0 | KEL*02N.44 | c.2175delC | Exon 19 | p.Ser726Profs*43 | chr7:142941276 |
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4:Null Alleles | K0 | KEL*02N.45 |
c.937G>A c.1073G>C |
Exon 9
Exon 9 |
p.Ala313Thr p.Arg358Thr |
chr7:142953944 chr7:142953808 |
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4:Null Alleles | K0 | KEL*02N.46 | c.160_161delATinsCTCC | Exon 3 | p.Ile54Leufs*136 | chr7:142961423 |
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4:Null Alleles | K0 | KEL*02N.47 | c.1664G>T | Exon 15 | p.Gly555Val | chr7:142943525 |
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4:Null Alleles | K0 | KEL*02N.48 | c.481A>T | Exon 5 | p.Ile161Phe | chr7:142958348 |
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4:Null Alleles | K0 | KEL*02N.49 | c.997C>T | Exon 9 | p.Gln333* | chr7:142953884 |
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4:Null Alleles | K0 | KEL*02N.50 | c.2120delG | Exon 19 | p.Ser707Thrfs*17 | chr7:142941331 |
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4:Null Alleles | K0 | KEL*02N.51 | c.1414-1G>C | Intron 12 | Aberrant splicing | chr7:142944401 |
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4:Null Alleles | K0 | KEL*02N.52 | c.1813_1814insC | Exon 17 | p.Gln605Profs*18 | chr7:142943003 |
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4:Null Alleles | K0 | KEL*02N.53 | c.371delA | Exon 4 | p.Lys124Argfs*65 | chr7:142960957 |
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4:Null Alleles | K0 | KEL*02N.54 | c.201C>A | Exon 3 | p.Tyr67* | chr7:142961382 |
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0:Antigen Alleles | KEL:3,−4,−21 or Kp(a+b-c-) | KEL*TEST_TEST | c.841C>T | Exon 8 | p.Arg281Trp | chr7:142954267 | , , |