Canonical Allele Identifier: CA591377487

Gene: ABO

Linked Data

• dbSNP Id: rs1564303643
• gnomAD v2: 9-136131154-CG-C
• gnomAD v4: 9-133255767-CG-C
• MyVariant Identifiers: chr9:g.136131155del (hg19) ; chr9:g.133255768del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255772del , CM000671.2:g.133255772del	GRCh38
NC_000009.11:g.136131159del , CM000671.1:g.136131159del	GRCh37
NC_000009.10:g.135120980del	NCBI36
NG_006669.1:g.21900del
NG_006669.2:g.24448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.992del
ENST00000647353.1:n.54-4616del
ENST00000679909.1:c.28+19394del	ENSP00000506089.1:n.28+19394del
ENST00000453660.3:n.974del
ENST00000538324.2:c.960del	ENSP00000483018.1:p.Glu321SerfsTer15
ENST00000611156.4:c.960del	ENSP00000483265.1:p.Glu321SerfsTer15
NM_020469.2:c.963del	NP_065202.2:p.Glu322SerfsTer15
NM_020469.3:c.963del	NP_065202.2:p.Glu322SerfsTer15