019 Kx Blood Group
The Kx blood group system contains one antigen carried on a multipass protein of 444 amino acids, which is linked to the Kell glycoprotein through a disulphide bond.
Reference Info
Gene: XK
Allele: XK*01
Seq: NG_007473.2
(genomic), NM_021083.3 (transcript)
Entrez GeneID: 7504
Number of exons: 3
Allele: XK*01
Seq: NG_007473.2
(genomic), NM_021083.3 (transcript)
Entrez GeneID: 7504
Number of exons: 3
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 0:Antigen Alleles | XK:1 or Kx+ | XK*01 | ||||||||
| 4:Null Alleles | XK:-1 kx- | XK*N.01 | Deletion of XK gene | |||||||
| 4:Null Alleles | XK*N.01.001 | deletion Xp22.3 – 21.1 | ||||||||
| 4:Null Alleles | XK*N.01.002 | deletion Xp21.3 – 21.1 5-10mbp | ||||||||
| 4:Null Alleles | XK*N.01.003 | deletion Xp21.2-21.1 | ||||||||
| 4:Null Alleles | XK*N.01.004 | deletion Xp21.2-21.1 | ||||||||
| 4:Null Alleles | XK*N.01.005 | deletion Xp21.2 | ||||||||
| 4:Null Alleles | XK*N.01.006 | deletion Xp21.2-21.1 | ||||||||
| 4:Null Alleles | XK*N.01.007 | deletion Xp21.2-21.1 | ||||||||
| 4:Null Alleles | XK*N.01.008 | deletion Xp21.2-21.1 | ||||||||
| 4:Null Alleles | XK*N.01.009 | deletion Xp21.2-21.1 | ||||||||
| 4:Null Alleles | XK*N.01.010 | deletion Xp21.2-21.1 | ||||||||
| 4:Null Alleles | XK*N.01.011 | |||||||||
| 4:Null Alleles | XK*N.01.100 | deletion 1.12mbp | ||||||||
| 4:Null Alleles | XK*N.01.101 | deletion 5.65mbp | ||||||||
| 4:Null Alleles | XK*N.01.102 | deletion 0.59mbp | ||||||||
| 4:Null Alleles | XK*N.01.103 | deletion 1.94mbp | ||||||||
| 4:Null Alleles | XK*N.01.104 | deletion 5.71mbp | ||||||||
| 4:Null Alleles | XK*N.01.105 | deletion 0.151mpb | ||||||||
| 4:Null Alleles | XK:-1 kx- | XK*N.02 | Del exon 1 | del AA 1 to 82 | ||||||
| 4:Null Alleles | XK:-1 kx- | XK*N.03 | Del promoter + exon 1 | del AA 1 - 82 | ||||||
| 4:Null Alleles | XK:-1 kx- | XK*N.04 | Del exon 2 | Del AA 82 to 170 | ||||||
| 4:Null Alleles | XK:-1 kx- | XK*N.05 |
del intron 2 del exon 3 |
del AA 170 - 444 | ||||||
| 4:Null Alleles | XK:-1 kx- | XK*N.06 | del -272 to 119 | del 1 to 40 + fs 45X | ||||||
| 4:Null Alleles | XK:-1 kx- | XK*N.07 | 172delG | Exon 1 | V58Y + fs 129X | chrX:37686133 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.08 | 269delA | Exon 2 | Y90S + fs 129X | chrX:37694329 |
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| 4:Null Alleles | XK:-1 kx | XK*N.09 | 268delT | Exon 2 | Y90T + fs 129X | chrX:37694328 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.10 | 450-451 insC | Q151P + fs 198X | ||||||
| 4:Null Alleles | XK:-1 kx- | XK*N.11 | 686+687delTT | Intron 3 | F229Y + fs 264X | chrX:37728520 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.12 | 771delG | Exon 3 | W257C + fs 264X | chrX:37727918 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.13 | 856-860delCTCTA | Intron 2 | delL + L286Y + fs 301X | chrX:37727143 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.14 | 938-951del | Intron 2 | del WYQL + N313T + fs 336X | chrX:37727134 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.15 | 1013delT | Exon 3 | F338S + fs 408X | chrX:37728160 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.16 | 107G>A | Exon 1 | W36X | chrX:37686068 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.17 | 397C>T | Exon 2 | R133X | chrX:37694457 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.18 | 463C>T | Exon 2 | Q155X | chrX:37694523 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.19 | 707G>A | Exon 3 | W236X | chrX:37727854 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.20 | c.799C>T | Exon 3 | p.Q299X | chrX:37727946 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.21 | 941G>A | Exon 3 | W314X | chrX:37728088 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.22 | 245+1G>C | Intron 1 | Alt. splice | chrX:37686207 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.23 | 246-1G>A | Intron 1 | Alt. splice | chrX:37694305 |
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| 4:Null Alleles | XK:-1 kx | XK*N.24 | 508+1G>A | Intron 2 | Alt. splice | chrX:37694569 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.25 | 508+5G>A | Intron 2 | Alt. splice | chrX:37694573 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.26 | 509-1G>A | Intron 2 | Alt. splice | chrX:37727655 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.27 | 664C>G | Exon 3 | R222G | chrX:37727811 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.28 | 880T>C | Exon 3 | C294R | chrX:37728027 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.29 | 979G>A | Exon 3 | E327K | chrX:37728126 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.30 | 1124G>C | Exon 3 | R375P | chrX:37728271 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.31 | 1134C>G | Exon 3 | N378K | chrX:37728281 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.32 | 962A>G | Exon 3 | Y321C | chrX:37728109 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.33 | 509-13C>G | Intron 2 | Alt. splice site | chrX:37727643 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.34 | 523insA | Exon 3 | I175N + fs 198X | chrX:37727670 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.35 | 509-2A>G | Intron 2 | Alt. splice site | chrX:37727654 |
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| 4:Null Alleles | XK:-1 kx | XK*N.36 | 229delC | Exon 1 | fs 125X | chrX:37686190 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.37 | 154 C>T | Exon 1 | Q52X | chrX:37686115 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.38 | 724-729del5ins13 (delTGTAGinsGGT CCTCTTTACC) | Exon 3 | Frameshift causes X 36bp (12AA) upstream | chrX:37727871 |
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| 4:Null Alleles | XK:-1 kx- | XK*N.39 | 195-198delCCGC | Frameshift causes X 187bp upstream (fs128X) | chrX:37685958 |
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| 4:Null Alleles | XK: -1 kx- | XK*N.40 | 640-645del TGGAGG | Intron 2 | Del W213 & R214 | chrX:37727142 |
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| 4:Null Alleles | XK: -1 kx- | XK*N.41 | 475delA | Exon 2 | S159V + fs 174X | chrX:37694535 |
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| 4:Null Alleles | XK: -1 kx- | XK*N.42 | 1015A>T | Exon 3 | K339X | chrX:37728162 |
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| 4:Null Alleles | XK: -1 kx- | XK*N.43 | 452A>C | Exon 2 | Q151P | chrX:37694512 |
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