Canonical Allele Identifier: CA127356
Gene: ABO HGNC NCBI
COSMIC:
COSM301612
gnomAD v2:
9:136131056 CG / C
gnomAD v3:
9:133255669 CG / C
gnomAD v4:
chr9-133255669-CG-C
Joint Max Group AF 0.06828139 (NFE)
Genomes Max Group AF 0.06550305 (NFE)
Exomes Max Group AF 0.06836441 (NFE)
ClinVar RCV:
RCV000019311
ClinVar Variation:
17737
dbSNP:
56392308
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255672del , CM000671.2:g.133255672del GRCh38
NC_000009.11:g.136131059del , CM000671.1:g.136131059del GRCh37
NC_000009.10:g.135120880del NCBI36
NG_006669.1:g.21998del
NG_006669.2:g.24546del

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1090del
ENST00000647353.1:n.54-4518del
ENST00000679909.1:c.28+19492del ENSP00000506089.1:n.28+19492del
ENST00000453660.3:n.1072del
ENST00000538324.2:c.1054del
ENST00000611156.4:c.1058del ENSP00000483265.1:p.Pro353ArgfsTer23
NM_020469.2:c.1061del NP_065202.2:p.Pro354ArgfsTer23
NM_020469.3:c.1061del NP_065202.2:p.Pro354ArgfsTer23
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