Canonical Allele Identifier: CA200765413

Gene: ABO

Linked Data

• dbSNP Id: rs1002748847
• gnomAD v2: 9-136131460-CG-C
• gnomAD v3: 9-133256073-CG-C
• gnomAD v4: 9-133256073-CG-C
• MyVariant Identifiers: chr9:g.136131461del (hg19) ; chr9:g.133256074del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256074del , CM000671.2:g.133256074del	GRCh38
NC_000009.11:g.136131461del , CM000671.1:g.136131461del	GRCh37
NC_000009.10:g.135121282del	NCBI36
NG_006669.1:g.21594del
NG_006669.2:g.24142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.686del
ENST00000647353.1:n.54-4922del
ENST00000679909.1:c.28+19088del	ENSP00000506089.1:n.28+19088del
ENST00000453660.3:n.668del
ENST00000538324.2:c.654del	ENSP00000483018.1:p.His218GlnfsTer7
ENST00000611156.4:c.654del	ENSP00000483265.1:p.His218GlnfsTer7
NM_020469.2:c.657del	NP_065202.2:p.His219GlnfsTer7
NM_020469.3:c.657del	NP_065202.2:p.His219GlnfsTer7