Canonical Allele Identifier: CA5305642

Gene: ABO

Linked Data

• dbSNP Id: rs782092625
• ExAC: 9:136131044 GGCAGCC / G
• gnomAD v3: 9-133255657-GGCAGCC-G
• gnomAD v4: 9-133255657-GGCAGCC-G
• MyVariant Identifiers: chr9:g.136131045_136131050del (hg19) ; chr9:g.133255658_133255663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255660_133255665del , CM000671.2:g.133255660_133255665del	GRCh38
NC_000009.11:g.136131047_136131052del , CM000671.1:g.136131047_136131052del	GRCh37
NC_000009.10:g.135120868_135120873del	NCBI36
NG_006669.1:g.22005_22010del
NG_006669.2:g.24553_24558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1097_1102del
ENST00000647353.1:n.54-4511_54-4506del
ENST00000679909.1:c.28+19499_28+19504del	ENSP00000506089.1:n.28+19499_28+19504del
ENST00000453660.3:n.1079_1084del
ENST00000538324.2:c.1061_1066del	ENSP00000483018.1:p.Arg354_Leu355del
ENST00000611156.4:c.*3_*8del	ENSP00000483265.1:n.*3_*8del
NM_020469.2:c.*3_*8del	NP_065202.2:n.*3_*8del
NM_020469.3:c.*3_*8del	NP_065202.2:n.*3_*8del