Canonical Allele Identifier: CA5305705

Gene: ABO

Linked Data

• dbSNP Id: rs781846902
• ExAC: 9:136131264 T / TG
• gnomAD v2: 9-136131264-T-TG
• gnomAD v4: 9-133255877-T-TG
• MyVariant Identifiers: chr9:g.136131264_136131265insG (hg19) ; chr9:g.133255877_133255878insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255879dup , CM000671.2:g.133255879dup	GRCh38
NC_000009.11:g.136131266dup , CM000671.1:g.136131266dup	GRCh37
NC_000009.10:g.135121087dup	NCBI36
NG_006669.1:g.21790dup
NG_006669.2:g.24338dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.882dup
ENST00000647353.1:n.54-4726dup
ENST00000679909.1:c.28+19284dup	ENSP00000506089.1:n.28+19284dup
ENST00000453660.3:n.864dup
ENST00000538324.2:c.850dup	ENSP00000483018.1:p.His284ProfsTer?
ENST00000611156.4:c.850dup	ENSP00000483265.1:p.His284ProfsTer?
NM_020469.2:c.853dup	NP_065202.2:p.His285ProfsTer?
NM_020469.3:c.853dup	NP_065202.2:p.His285ProfsTer?