Canonical Allele Identifier: CA591377564

Gene: ABO

Linked Data

• dbSNP Id: rs1387720573
• gnomAD v2: 9-136131734-AG-A
• gnomAD v4: 9-133256347-AG-A
• MyVariant Identifiers: chr9:g.136131735del (hg19) ; chr9:g.133256348del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256348del , CM000671.2:g.133256348del	GRCh38
NC_000009.11:g.136131735del , CM000671.1:g.136131735del	GRCh37
NC_000009.10:g.135121556del	NCBI36
NG_006669.1:g.21320del
NG_006669.2:g.23868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.412del
ENST00000647353.1:n.54-5196del
ENST00000651471.1:n.338del
ENST00000679909.1:c.28+18814del	ENSP00000506089.1:n.28+18814del
ENST00000453660.3:n.394del
ENST00000538324.2:c.380del	ENSP00000483018.1:p.Ala127ValfsTer3
ENST00000611156.4:c.380del	ENSP00000483265.1:p.Ala127ValfsTer3
NM_020469.2:c.383del	NP_065202.2:p.Ala128ValfsTer3
NM_020469.3:c.383del	NP_065202.2:p.Ala128ValfsTer3