Canonical Allele Identifier: CA2614191517
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759533del , CM000673.2:g.64759533del GRCh38
NC_000011.9:g.64527005del , CM000673.1:g.64527005del GRCh37
NC_000011.8:g.64283581del NCBI36
NG_013018.1:g.6184del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.243+124del MANE Select ENSP00000164139.3:n.243+124del
ENST00000164139.3:c.243+124del ENSP00000164139.3:n.243+124del
ENST00000377432.7:c.243+124del ENSP00000366650.3:n.243+124del
NM_001164716.1:c.243+124del NP_001158188.1:n.243+124del
NM_005609.2:c.243+124del NP_005600.1:n.243+124del
NM_005609.3:c.243+124del NP_005600.1:n.243+124del
NM_005609.4:c.243+124del MANE Select NP_005600.1:n.243+124del