Canonical Allele Identifier: CA2840305263

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256206dup , CM000671.2:g.133256206dup	GRCh38
NC_000009.11:g.136131593dup , CM000671.1:g.136131593dup	GRCh37
NC_000009.10:g.135121414dup	NCBI36
NG_006669.1:g.21462dup
NG_006669.2:g.24010dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.554dup
ENST00000647353.1:n.54-5054dup
ENST00000651471.1:n.480dup
ENST00000679909.1:c.28+18956dup	ENSP00000506089.1:n.28+18956dup
ENST00000453660.3:n.536dup
ENST00000538324.2:c.522dup	ENSP00000483018.1:p.Arg175AlafsTer19
ENST00000611156.4:c.522dup	ENSP00000483265.1:p.Arg175AlafsTer19
NM_020469.2:c.525dup	NP_065202.2:p.Arg176AlafsTer19
NM_020469.3:c.525dup	NP_065202.2:p.Arg176AlafsTer19