Canonical Allele Identifier: CA2954284484
Gene: ABO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256095dup , CM000671.2:g.133256095dup GRCh38
NC_000009.11:g.136131482dup , CM000671.1:g.136131482dup GRCh37
NC_000009.10:g.135121303dup NCBI36
NG_006669.1:g.21574dup
NG_006669.2:g.24122dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.666dup
ENST00000647353.1:n.54-4942dup
ENST00000679909.1:c.28+19068dup ENSP00000506089.1:n.28+19068dup
ENST00000453660.3:n.648dup
ENST00000538324.2:c.634dup ENSP00000483018.1:p.Asp212GlyfsTer?
ENST00000611156.4:c.634dup ENSP00000483265.1:p.Asp212GlyfsTer?
NM_020469.2:c.637dup NP_065202.2:p.Asp213GlyfsTer?
NM_020469.3:c.637dup NP_065202.2:p.Asp213GlyfsTer?