Canonical Allele Identifier: CA1129715984

Gene: ABO

Linked Data

• dbSNP Id: rs1834621381
• gnomAD v3: 9-133257438-GGTGGTGTTCTGGAGCCTGAACTGCTCGTTGAGGATGTCGATGTTGAAT-G
• gnomAD v4: 9-133257438-GGTGGTGTTCTGGAGCCTGAACTGCTCGTTGAGGATGTCGATGTTGAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257442_133257489del , CM000671.2:g.133257442_133257489del	GRCh38
NC_000009.11:g.136132829_136132876del , CM000671.1:g.136132829_136132876del	GRCh37
NC_000009.10:g.135122650_135122697del	NCBI36
NG_006669.1:g.20182_20229del
NG_006669.2:g.22730_22777del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.326_373del
ENST00000647353.1:n.54-6334_54-6287del
ENST00000651471.1:n.329+556_329+603del
ENST00000679909.1:c.28+17676_28+17723del	ENSP00000506089.1:n.28+17676_28+17723del
ENST00000453660.3:n.308_355del
ENST00000538324.2:c.294_341del	ENSP00000483018.1:p.Phe99_Thr114del
ENST00000611156.4:c.294_341del	ENSP00000483265.1:p.Phe99_Thr114del
NM_020469.2:c.297_344del	NP_065202.2:p.Phe100_Thr115del
NM_020469.3:c.297_344del	NP_065202.2:p.Phe100_Thr115del