Canonical Allele Identifier: CA591309050

Gene: ABO

Linked Data

• dbSNP Id: rs1177665587
• gnomAD v2: 9-136132625-GAGCCCACA-G
• gnomAD v3: 9-133257238-GAGCCCACA-G
• gnomAD v4: 9-133257238-GAGCCCACA-G
• MyVariant Identifiers: chr9:g.136132626_136132633del (hg19) ; chr9:g.133257239_133257246del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257239_133257246del , CM000671.2:g.133257239_133257246del	GRCh38
NC_000009.11:g.136132626_136132633del , CM000671.1:g.136132626_136132633del	GRCh37
NC_000009.10:g.135122447_135122454del	NCBI36
NG_006669.1:g.20422_20429del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.403+163_403+170del
ENST00000647353.1:n.54-6094_54-6087del
ENST00000651471.1:n.329+796_329+803del
ENST00000679909.1:c.28+17916_28+17923del	ENSP00000506089.1:n.28+17916_28+17923del
ENST00000453660.3:n.385+163_385+170del
ENST00000538324.2:c.371+163_371+170del	ENSP00000483018.1:n.371+163_371+170del
ENST00000611156.4:c.371+163_371+170del	ENSP00000483265.1:n.371+163_371+170del
NM_020469.2:c.374+163_374+170del	NP_065202.2:n.374+163_374+170del
NM_020469.3:c.374+163_374+170del	NP_065202.2:n.374+163_374+170del