Canonical Allele Identifier: CA5305891
Gene: ABO HGNC NCBI
gnomAD v2:
9:136132808 AAC / A
gnomAD v3:
9:133257421 AAC / A
gnomAD v4:
chr9-133257421-AAC-A
Joint Max Group AF 0.00000763 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0000099 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257425_133257426del , CM000671.2:g.133257425_133257426del GRCh38
NC_000009.11:g.136132812_136132813del , CM000671.1:g.136132812_136132813del GRCh37
NC_000009.10:g.135122633_135122634del NCBI36
NG_006669.1:g.20245_20246del
NG_006669.2:g.22793_22794del

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.389_390del
ENST00000647353.1:n.54-6271_54-6270del
ENST00000651471.1:n.329+619_329+620del
ENST00000679909.1:c.28+17739_28+17740del ENSP00000506089.1:n.28+17739_28+17740del
ENST00000453660.3:n.371_372del
ENST00000538324.2:c.357_358del ENSP00000483018.1:p.Phe120CysfsTer?
ENST00000611156.4:c.357_358del ENSP00000483265.1:p.Phe120CysfsTer?
NM_020469.2:c.360_361del NP_065202.2:p.Phe121CysfsTer?
NM_020469.3:c.360_361del NP_065202.2:p.Phe121CysfsTer?
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