Canonical Allele Identifier: CA1978930170
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759950_64759959delinsTCAGCACTGC , CM000673.2:g.64759950_64759959delinsTCAGCACTGC GRCh38
NC_000011.9:g.64527422_64527431delinsTCAGCACTGC , CM000673.1:g.64527422_64527431delinsTCAGCACTGC GRCh37
NC_000011.8:g.64283998_64284007delinsTCAGCACTGC NCBI36
NG_013018.1:g.5757_5766delinsGCAGTGCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.-61_-52delinsGCAGTGCTGA MANE Select ENSP00000164139.3:n.-61_-52delinsGCAGTGCTGA
ENST00000164139.3:c.-61_-52delinsGCAGTGCTGA ENSP00000164139.3:n.-61_-52delinsGCAGTGCTGA
ENST00000377432.7:c.-61_-52delinsGCAGTGCTGA ENSP00000366650.3:n.-61_-52delinsGCAGTGCTGA
NM_001164716.1:c.-61_-52delinsGCAGTGCTGA NP_001158188.1:n.-61_-52delinsGCAGTGCTGA
NM_005609.2:c.-61_-52delinsGCAGTGCTGA NP_005600.1:n.-61_-52delinsGCAGTGCTGA
NM_005609.3:c.-61_-52delinsGCAGTGCTGA NP_005600.1:n.-61_-52delinsGCAGTGCTGA
NM_005609.4:c.-61_-52delinsGCAGTGCTGA MANE Select NP_005600.1:n.-61_-52delinsGCAGTGCTGA