Canonical Allele Identifier: CA2954284574

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256164dup , CM000671.2:g.133256164dup	GRCh38
NC_000009.11:g.136131551dup , CM000671.1:g.136131551dup	GRCh37
NC_000009.10:g.135121372dup	NCBI36
NG_006669.1:g.21505dup
NG_006669.2:g.24053dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.597dup
ENST00000647353.1:n.54-5011dup
ENST00000651471.1:n.523dup
ENST00000679909.1:c.28+18999dup	ENSP00000506089.1:n.28+18999dup
ENST00000453660.3:n.579dup
ENST00000538324.2:c.565dup	ENSP00000483018.1:p.Glu189GlyfsTer5
ENST00000611156.4:c.565dup	ENSP00000483265.1:p.Glu189GlyfsTer5
NM_020469.2:c.568dup	NP_065202.2:p.Glu190GlyfsTer5
NM_020469.3:c.568dup	NP_065202.2:p.Glu190GlyfsTer5