Canonical Allele Identifier: CA2954283839

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255712dup , CM000671.2:g.133255712dup	GRCh38
NC_000009.11:g.136131099dup , CM000671.1:g.136131099dup	GRCh37
NC_000009.10:g.135120920dup	NCBI36
NG_006669.1:g.21957dup
NG_006669.2:g.24505dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1049dup
ENST00000647353.1:n.54-4559dup
ENST00000679909.1:c.28+19451dup	ENSP00000506089.1:n.28+19451dup
ENST00000453660.3:n.1031dup
ENST00000538324.2:c.1017dup	ENSP00000483018.1:p.Phe340ValfsTer14
ENST00000611156.4:c.1017dup	ENSP00000483265.1:p.Phe340ValfsTer?
NM_020469.2:c.1020dup	NP_065202.2:p.Phe341ValfsTer?
NM_020469.3:c.1020dup	NP_065202.2:p.Phe341ValfsTer?