Canonical Allele Identifier: CA5305902
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs782328978
ExAC: 9:136132851 CG / C
gnomAD v2: 9-136132851-CG-C
gnomAD v4: 9-133257464-CG-C
MyVariant Identifiers: chr9:g.136132852del (hg19) chr9:g.133257465del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257465del , CM000671.2:g.133257465del GRCh38
NC_000009.11:g.136132852del , CM000671.1:g.136132852del GRCh37
NC_000009.10:g.135122673del NCBI36
NG_006669.1:g.20203del
NG_006669.2:g.22751del

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.347del
ENST00000647353.1:n.54-6313del
ENST00000651471.1:n.329+577del
ENST00000679909.1:c.28+17697del ENSP00000506089.1:n.28+17697del
ENST00000453660.3:n.329del
ENST00000538324.2:c.315del ENSP00000483018.1:p.Asn105LysfsTer13
ENST00000611156.4:c.315del ENSP00000483265.1:p.Asn105LysfsTer13
NM_020469.2:c.318del NP_065202.2:p.Asn106LysfsTer13
NM_020469.3:c.318del NP_065202.2:p.Asn106LysfsTer13
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