Canonical Allele Identifier: CA591377506

Gene: ABO

Linked Data

• dbSNP Id: rs1367626108
• gnomAD v2: 9-136131323-GT-G
• gnomAD v3: 9-133255936-GT-G
• gnomAD v4: 9-133255936-GT-G
• MyVariant Identifiers: chr9:g.136131324del (hg19) ; chr9:g.133255937del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255937del , CM000671.2:g.133255937del	GRCh38
NC_000009.11:g.136131324del , CM000671.1:g.136131324del	GRCh37
NC_000009.10:g.135121145del	NCBI36
NG_006669.1:g.21731del
NG_006669.2:g.24279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.823del
ENST00000647353.1:n.54-4785del
ENST00000679909.1:c.28+19225del	ENSP00000506089.1:n.28+19225del
ENST00000453660.3:n.805del
ENST00000538324.2:c.791del	ENSP00000483018.1:p.Tyr264SerfsTer24
ENST00000611156.4:c.791del	ENSP00000483265.1:p.Tyr264SerfsTer24
NM_020469.2:c.794del	NP_065202.2:p.Tyr265SerfsTer24
NM_020469.3:c.794del	NP_065202.2:p.Tyr265SerfsTer24