Canonical Allele Identifier: CA912972832
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759823_64759832del , CM000673.2:g.64759823_64759832del GRCh38
NC_000011.9:g.64527295_64527304del , CM000673.1:g.64527295_64527304del GRCh37
NC_000011.8:g.64283871_64283880del NCBI36
NG_013018.1:g.5884_5893del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.67_76del MANE Select ENSP00000164139.3:p.Glu23LeufsTer3
ENST00000164139.3:c.67_76del ENSP00000164139.3:p.Glu23LeufsTer3
ENST00000377432.7:c.67_76del ENSP00000366650.3:p.Glu23LeufsTer3
NM_001164716.1:c.67_76del NP_001158188.1:p.Glu23LeufsTer3
NM_005609.2:c.67_76del NP_005600.1:p.Glu23LeufsTer3
NM_005609.3:c.67_76del NP_005600.1:p.Glu23LeufsTer3
NM_005609.4:c.67_76del MANE Select NP_005600.1:p.Glu23LeufsTer3