Canonical Allele Identifier: CA5305719

Gene: ABO

Linked Data

• dbSNP Id: rs782558267
• ExAC: 9:136131301 A / AC
• gnomAD v2: 9-136131301-A-AC
• gnomAD v3: 9-133255914-A-AC
• gnomAD v4: 9-133255914-A-AC
• MyVariant Identifiers: chr9:g.136131301_136131302insC (hg19) ; chr9:g.133255914_133255915insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255920dup , CM000671.2:g.133255920dup	GRCh38
NC_000009.11:g.136131307dup , CM000671.1:g.136131307dup	GRCh37
NC_000009.10:g.135121128dup	NCBI36
NG_006669.1:g.21753dup
NG_006669.2:g.24301dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.845dup
ENST00000647353.1:n.54-4763dup
ENST00000679909.1:c.28+19247dup	ENSP00000506089.1:n.28+19247dup
ENST00000453660.3:n.827dup
ENST00000538324.2:c.813dup	ENSP00000483018.1:p.Ser272ValfsTer?
ENST00000611156.4:c.813dup	ENSP00000483265.1:p.Ser272ValfsTer?
NM_020469.2:c.816dup	NP_065202.2:p.Ser273ValfsTer?
NM_020469.3:c.816dup	NP_065202.2:p.Ser273ValfsTer?