Canonical Allele Identifier: CA1129714654

Gene: ABO

Linked Data

• gnomAD v3: 9-133255269-TATGTGTGTGTAATGGTGTGTTTCTGTGGCCGGAAGGGCGTATCTGCGATTGC-T
• gnomAD v4: 9-133255269-TATGTGTGTGTAATGGTGTGTTTCTGTGGCCGGAAGGGCGTATCTGCGATTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255270_133255321del , CM000671.2:g.133255270_133255321del	GRCh38
NC_000009.11:g.136130657_136130708del , CM000671.1:g.136130657_136130708del	GRCh37
NC_000009.10:g.135120478_135120529del	NCBI36
NG_006669.1:g.22347_22398del
NG_006669.2:g.24895_24946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1439_1490del
ENST00000647353.1:n.54-4169_54-4118del
ENST00000679909.1:c.28+19841_28+19892del	ENSP00000506089.1:n.28+19841_28+19892del
ENST00000453660.3:n.1421_1472del
ENST00000611156.4:c.*345_*396del	ENSP00000483265.1:n.*345_*396del
NM_020469.2:c.*345_*396del	NP_065202.2:n.*345_*396del
NM_020469.3:c.*345_*396del	NP_065202.2:n.*345_*396del