Canonical Allele Identifier: CA156394
Gene: PGM1 HGNC NCBI
gnomAD v2:
1:64097430 TC / T
gnomAD v3:
1:63631759 TC / T
gnomAD v4:
chr1-63631759-TC-T
Joint Max Group AF 0.00006312 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00006522 (NFE)
ClinVar RCV:
RCV000119803
ClinVar Variation:
133290
dbSNP:
587777405
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63631761del , CM000663.2:g.63631761del GRCh38
NC_000001.10:g.64097432del , CM000663.1:g.64097432del GRCh37
NC_000001.9:g.63870020del NCBI36
NG_016966.1:g.43486del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.661del MANE Select ENSP00000360125.3:p.Arg221ValfsTer13
ENST00000650546.1:c.661del ENSP00000497812.1:p.Arg221ValfsTer13
ENST00000371083.4:c.715del ENSP00000360124.4:p.Arg239ValfsTer13
ENST00000371084.7:c.661del ENSP00000360125.3:p.Arg221ValfsTer13
ENST00000540265.5:c.70del ENSP00000443449.1:p.Arg24ValfsTer13
NM_001172818.1:c.715del NP_001166289.1:p.Arg239ValfsTer13
NM_001172819.1:c.70del NP_001166290.1:p.Arg24ValfsTer13
NM_002633.2:c.661del NP_002624.2:p.Arg221ValfsTer13
NM_002633.3:c.661del MANE Select NP_002624.2:p.Arg221ValfsTer13
NM_001172819.2:c.70del NP_001166290.1:p.Arg24ValfsTer13
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