Canonical Allele Identifier: CA1978916526
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751516_64751517delinsCT , CM000673.2:g.64751516_64751517delinsCT GRCh38
NC_000011.9:g.64518988_64518989delinsCT , CM000673.1:g.64518988_64518989delinsCT GRCh37
NC_000011.8:g.64275564_64275565delinsCT NCBI36
NG_013018.1:g.14199_14200delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1828-51_1828-50delinsAG MANE Select ENSP00000164139.3:n.1828-51_1828-50delins...
ENST00000164139.3:c.1828-51_1828-50delinsAG ENSP00000164139.3:n.1828-51_1828-50delins...
ENST00000377432.7:c.1564-51_1564-50delinsAG ENSP00000366650.3:n.1564-51_1564-50delins...
ENST00000462303.1:n.152-51_152-50delinsAG
NM_001164716.1:c.1564-51_1564-50delinsAG NP_001158188.1:n.1564-51_1564-50delinsAG
NM_005609.2:c.1828-51_1828-50delinsAG NP_005600.1:n.1828-51_1828-50delinsAG
NM_005609.3:c.1828-51_1828-50delinsAG NP_005600.1:n.1828-51_1828-50delinsAG
NM_005609.4:c.1828-51_1828-50delinsAG MANE Select NP_005600.1:n.1828-51_1828-50delinsAG