Canonical Allele Identifier: CA2840305253

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255702dup , CM000671.2:g.133255702dup	GRCh38
NC_000009.11:g.136131089dup , CM000671.1:g.136131089dup	GRCh37
NC_000009.10:g.135120910dup	NCBI36
NG_006669.1:g.21967dup
NG_006669.2:g.24515dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1059dup
ENST00000647353.1:n.54-4549dup
ENST00000679909.1:c.28+19461dup	ENSP00000506089.1:n.28+19461dup
ENST00000453660.3:n.1041dup
ENST00000538324.2:c.1027dup	ENSP00000483018.1:p.Val343GlyfsTer11
ENST00000611156.4:c.1027dup	ENSP00000483265.1:p.Val343GlyfsTer?
NM_020469.2:c.1030dup	NP_065202.2:p.Val344GlyfsTer?
NM_020469.3:c.1030dup	NP_065202.2:p.Val344GlyfsTer?