Canonical Allele Identifier: CA467852866

Gene: ABO

Linked Data

• dbSNP Id: rs1466497889
• gnomAD v2: 9-136131412-AGCCGG-A
• gnomAD v4: 9-133256025-AGCCGG-A
• MyVariant Identifiers: chr9:g.136131413_136131417del (hg19) ; chr9:g.133256026_133256030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256027_133256031del , CM000671.2:g.133256027_133256031del	GRCh38
NC_000009.11:g.136131414_136131418del , CM000671.1:g.136131414_136131418del	GRCh37
NC_000009.10:g.135121235_135121239del	NCBI36
NG_006669.1:g.21638_21642del
NG_006669.2:g.24186_24190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.730_734del
ENST00000647353.1:n.54-4878_54-4874del
ENST00000679909.1:c.28+19132_28+19136del	ENSP00000506089.1:n.28+19132_28+19136del
ENST00000453660.3:n.712_716del
ENST00000538324.2:c.698_702del	ENSP00000483018.1:p.Pro233LeufsTer?
ENST00000611156.4:c.698_702del	ENSP00000483265.1:p.Pro233LeufsTer?
NM_020469.2:c.701_705del	NP_065202.2:p.Pro234LeufsTer?
NM_020469.3:c.701_705del	NP_065202.2:p.Pro234LeufsTer?