Canonical Allele Identifier: CA2954284191

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255985_133255986insTTCACCTAC , CM000671.2:g.133255985_133255986insTTCACCTAC	GRCh38
NC_000009.11:g.136131372_136131373insTTCACCTAC , CM000671.1:g.136131372_136131373insTTCACCTAC	GRCh37
NC_000009.10:g.135121193_135121194insTTCACCTAC	NCBI36
NG_006669.1:g.21683_21684insTAGGTGAAG
NG_006669.2:g.24231_24232insTAGGTGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.775_776insTAGGTGAAG
ENST00000647353.1:n.54-4833_54-4832insTAGGTGAAG
ENST00000679909.1:c.28+19177_28+19178insTAGGTGAAG	ENSP00000506089.1:n.28+19177_28+19178insTAGGTGAAG
ENST00000453660.3:n.757_758insTAGGTGAAG
ENST00000538324.2:c.743_744insTAGGTGAAG	ENSP00000483018.1:p.Arg249ArgfsTer2
ENST00000611156.4:c.743_744insTAGGTGAAG	ENSP00000483265.1:p.Arg249ArgfsTer2
NM_020469.2:c.746_747insTAGGTGAAG	NP_065202.2:p.Arg250ArgfsTer2
NM_020469.3:c.746_747insTAGGTGAAG	NP_065202.2:p.Arg250ArgfsTer2