020 Gerbich Blood Group
The Gerbich blood group system consists of 11 antigens carried on a single pass type I membrane glycoprotein with called glycophorin C (GPC) and/or glycophorin D (GPD). GPC consists of 128 amino acids and GPD, the shorter isoform, has 107 amino acids. The glycoproteins are encoded by GYPC, or GE if analysis is to predict a blood group antigen.
Antigens
[1] …
[2] Ge2
[3] Ge3
[4] Ge4
[5] Wb
[6] Lsa
[7] Ana
[8] Dha
[9] GEIS
[10] GEPL
[11] GEAT
[12] GETI
Reference Info
Gene: GYPC
Allele: GE*01. Acceptable: Ge if inferred by haemagglutination
Seq: NG_007479.1 (genomic), NM_002101.4 (transcript)
Entrez GeneID: 2995
Number of exons: 4
Allele: GE*01. Acceptable: Ge if inferred by haemagglutination
Seq: NG_007479.1 (genomic), NM_002101.4 (transcript)
Entrez GeneID: 2995
Number of exons: 4
Loading Data ... |
allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
---|---|---|---|---|---|---|---|---|---|---|
0:Antigen Alleles | GE:2,3,4 | GE*01 | ||||||||
0:Antigen Alleles | Ge:-2,3,4 or Yus type | GE*01.-02 | del Exon 2 | in frame deletion | ||||||
0:Antigen Alleles | Ge:-2,3,4 or Yus type | GE*01.-02.01 | NG_007479.1: g.39158_42766del c.60_116del | p.(Ala23_Met41del) | ||||||
0:Antigen Alleles | GE*01.-02.02 | NG_007479.1: g.37523_41132del c.50- 1625_107-1625del | p.(Glu17_Ala35del) | |||||||
0:Antigen Alleles | GE*01.-02.03 | NG_007479.1: g.38410_42021del c.50- 738_107-736del | p.(Glu17_Ala35del) | |||||||
0:Antigen Alleles | GE*01.-02.04 | NG_007479.1: g.37342_40948del c.50- 1806_106+1744del | p.(Glu17_Ala35del) | |||||||
0:Antigen Alleles | GE:-2,-3,4 or Gerbich type | GE*01.-03 | del Exon 3 | in frame deletion | ||||||
0:Antigen Alleles | GE:-2,-3,4 or Gerbich type | GE*01.-03.01 | NG_007479.1: g.40492_44103del c.106+1288_191-736del | p.(Glu36_Ala63del) | ||||||
0:Antigen Alleles | GE*01.-03.02 | NG_007479.1: g.40117_43777del c.106+913_190+937del | p.(Glu36_Ala63del) | |||||||
0:Antigen Alleles | GE*01.-03.03 | NG_007479.1: g.39347_42996del c.106+143_190+156del | p.(Glu36_Ala63del) | |||||||
0:Antigen Alleles | GE:-10 or GEPL- | GE*01.-10 | c.134C>T | Exon 3 | p.Pro45Leu in GPC, p.Pro24Leu in GPD | chr2:126693891 | ||||
0:Antigen Alleles | GE :-11 or GEAT- | GE*01.-11 | c.56A>T | Exon 2 | p.Asp19Val in GPC | chr2:126690261 | ||||
0:Antigen Alleles | GE:-12 or GETI- | GE*01.-12 | c.80C>T | Exon 2 | p.Thr27Ile in GPC, p.Thr6Ile in GPD | chr2:126690285 | ||||
0:Antigen Alleles | GE:5 or Wb+ | GE*01.05 | c.23A>G | Exon 1 | p.Asn8Ser in GPC | chr2:126656286 | ||||
0:Antigen Alleles | GE:6 or Ls(a+) | GE*01.06.01 | Duplicated Exon 3 | in frame duplication | ||||||
0:Antigen Alleles | GE:6 or Ls(a+) | GE*01.06.02 | Triplicated Exon 3 | in frame triplication | ||||||
0:Antigen Alleles | GE:7 or An(a+) | GE*01.07 | c.67G>T | Exon 2 | p.Ala23Ser in GPC, p.Ala2Ser in GPD ‡ | chr2:126690272 | ||||
0:Antigen Alleles | GE:8 or Dh(a+) | GE*01.08 | c.40C>T | Exon 1 | p.Leu14Phe in GPC | chr2:126656303 | ||||
0:Antigen Alleles | GE:9 or GEIS+ | GE*01.09 | c.95C>A | Exon 2 | p.Thr32Asn in GPC, p.Thr11Asn in GPD | chr2:126690300 |
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4:Null Alleles | Ge:-2,-3,-4 Leach type (PL) | GE*01N.01 | del Exons 3 & 4 | |||||||
4:Null Alleles | Ge:-2,-3,-4 Leach type (LN) | GE*01N.02 |
c.131G>T c.134delC |
Exon 3
Exon 3 |
p.Trp44Leu p.Pro45Argfs*12 |
chr2:126693888 chr2:126693891 |
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