Canonical Allele Identifier: CA591309462

Gene: ABO

Linked Data

• dbSNP Id: rs1328417620
• gnomAD v2: 9-136133513-G-GT
• gnomAD v4: 9-133258123-G-GT
• MyVariant Identifiers: chr9:g.136133513_136133514insT (hg19) ; chr9:g.133258123_133258124insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133258124dup , CM000671.2:g.133258124dup	GRCh38
NC_000009.11:g.136133514dup , CM000671.1:g.136133514dup	GRCh37
NC_000009.10:g.135123335dup	NCBI36
NG_006669.1:g.19540dup
NG_006669.2:g.22091dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.242dup
ENST00000647353.1:n.54-6972dup
ENST00000651471.1:n.247dup
ENST00000679909.1:c.28+17038dup	ENSP00000506089.1:n.28+17038dup
ENST00000453660.3:n.224dup
ENST00000538324.2:c.212dup	ENSP00000483018.1:p.Tyr71Ter
ENST00000611156.4:c.212dup	ENSP00000483265.1:p.Tyr71Ter
NM_020469.2:c.212dup	NP_065202.2:p.Tyr71Ter
NM_020469.3:c.212dup	NP_065202.2:p.Tyr71Ter