Canonical Allele Identifier: CA127356

Gene: ABO

Linked Data

• ClinVar Variation Id: 17737
• ClinVar RCV Id: RCV000019311
• dbSNP Id: rs56392308
• ExAC: 9:136131056 CG / C
• gnomAD v2: 9-136131056-CG-C
• gnomAD v3: 9-133255669-CG-C
• gnomAD v4: 9-133255669-CG-C
• COSMIC: COSM301612
• MyVariant Identifiers: chr9:g.136131057del (hg19) ; chr9:g.133255671del (hg38) ; chr9:g.133255670del (hg38)
• PubMed: PMID:1520322

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255672del , CM000671.2:g.133255672del	GRCh38
NC_000009.11:g.136131059del , CM000671.1:g.136131059del	GRCh37
NC_000009.10:g.135120880del	NCBI36
NG_006669.1:g.21998del
NG_006669.2:g.24546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1090del
ENST00000647353.1:n.54-4518del
ENST00000679909.1:c.28+19492del	ENSP00000506089.1:n.28+19492del
ENST00000453660.3:n.1072del
ENST00000538324.2:c.1054del
ENST00000611156.4:c.1058del	ENSP00000483265.1:p.Pro353ArgfsTer23
NM_020469.2:c.1061del	NP_065202.2:p.Pro354ArgfsTer23
NM_020469.3:c.1061del	NP_065202.2:p.Pro354ArgfsTer23