Canonical Allele Identifier: CA2574864938
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758617_64758618del , CM000673.2:g.64758617_64758618del GRCh38
NC_000011.9:g.64526089_64526090del , CM000673.1:g.64526089_64526090del GRCh37
NC_000011.8:g.64282665_64282666del NCBI36
NG_013018.1:g.7098_7099del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.330_331del MANE Select ENSP00000164139.3:p.Asp110GlufsTer17
ENST00000164139.3:c.330_331del ENSP00000164139.3:p.Asp110GlufsTer17
ENST00000377432.7:c.244-352_244-351del ENSP00000366650.3:n.244-352_244-351del
NM_001164716.1:c.244-352_244-351del NP_001158188.1:n.244-352_244-351del
NM_005609.2:c.330_331del NP_005600.1:p.Asp110GlufsTer17
NM_005609.3:c.330_331del NP_005600.1:p.Asp110GlufsTer17
NM_005609.4:c.330_331del MANE Select NP_005600.1:p.Asp110GlufsTer17