Canonical Allele Identifier: CA2954284186

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255985dup , CM000671.2:g.133255985dup	GRCh38
NC_000009.11:g.136131372dup , CM000671.1:g.136131372dup	GRCh37
NC_000009.10:g.135121193dup	NCBI36
NG_006669.1:g.21684dup
NG_006669.2:g.24232dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.776dup
ENST00000647353.1:n.54-4832dup
ENST00000679909.1:c.28+19178dup	ENSP00000506089.1:n.28+19178dup
ENST00000453660.3:n.758dup
ENST00000538324.2:c.744dup	ENSP00000483018.1:p.Pro249AlafsTer?
ENST00000611156.4:c.744dup	ENSP00000483265.1:p.Pro249AlafsTer?
NM_020469.2:c.747dup	NP_065202.2:p.Pro250AlafsTer?
NM_020469.3:c.747dup	NP_065202.2:p.Pro250AlafsTer?