Canonical Allele Identifier: CA1882580100

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255998_133256001delinsTGAA , CM000671.2:g.133255998_133256001delinsTGAA	GRCh38
NC_000009.11:g.136131385_136131388delinsTGAA , CM000671.1:g.136131385_136131388delinsTGAA	GRCh37
NC_000009.10:g.135121206_135121209delinsTGAA	NCBI36
NG_006669.1:g.21667_21670delinsTTCA
NG_006669.2:g.24215_24218delinsTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.759_762delinsTTCA
ENST00000647353.1:n.54-4849_54-4846delinsTTCA
ENST00000679909.1:c.28+19161_28+19164delinsTTCA	ENSP00000506089.1:n.28+19161_28+19164delinsTTCA
ENST00000453660.3:n.741_744delinsTTCA
ENST00000538324.2:c.727_730delinsTTCA	ENSP00000483018.1:p.Phe243=
ENST00000611156.4:c.727_730delinsTTCA	ENSP00000483265.1:p.Phe243=
NM_020469.2:c.730_733delinsTTCA	NP_065202.2:p.Phe244=
NM_020469.3:c.730_733delinsTTCA	NP_065202.2:p.Phe244=