Canonical Allele Identifier: CA2692330339
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255624dup , CM000671.2:g.133255624dup GRCh38
NC_000009.11:g.136131011dup , CM000671.1:g.136131011dup GRCh37
NC_000009.10:g.135120832dup NCBI36
NG_006669.1:g.22048dup
NG_006669.2:g.24596dup

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.1140dup
ENST00000647353.1:n.54-4468dup
ENST00000679909.1:c.28+19542dup ENSP00000506089.1:n.28+19542dup
ENST00000453660.3:n.1122dup
ENST00000538324.2:c.1104dup ENSP00000483018.1:p.Ser369LeufsTer?
ENST00000611156.4:c.*46dup ENSP00000483265.1:n.*46dup
NM_020469.2:c.*46dup NP_065202.2:n.*46dup
NM_020469.3:c.*46dup NP_065202.2:n.*46dup