Canonical Allele Identifier: CA591377489

Gene: ABO

Linked Data

• dbSNP Id: rs1467021571
• gnomAD v2: 9-136131232-TGCCGTTG-T
• MyVariant Identifiers: chr9:g.136131233_136131239del (hg19) ; chr9:g.133255846_133255852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255849_133255855del , CM000671.2:g.133255849_133255855del	GRCh38
NC_000009.11:g.136131236_136131242del , CM000671.1:g.136131236_136131242del	GRCh37
NC_000009.10:g.135121057_135121063del	NCBI36
NG_006669.1:g.21816_21822del
NG_006669.2:g.24364_24370del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.908_914del
ENST00000647353.1:n.54-4700_54-4694del
ENST00000679909.1:c.28+19310_28+19316del	ENSP00000506089.1:n.28+19310_28+19316del
ENST00000453660.3:n.890_896del
ENST00000538324.2:c.876_882del	ENSP00000483018.1:p.Asn293SerfsTer11
ENST00000611156.4:c.876_882del	ENSP00000483265.1:p.Asn293SerfsTer11
NM_020469.2:c.879_885del	NP_065202.2:p.Asn294SerfsTer11
NM_020469.3:c.879_885del	NP_065202.2:p.Asn294SerfsTer11