Canonical Allele Identifier: CA912972830
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759700_64759701del , CM000673.2:g.64759700_64759701del GRCh38
NC_000011.9:g.64527172_64527173del , CM000673.1:g.64527172_64527173del GRCh37
NC_000011.8:g.64283748_64283749del NCBI36
NG_013018.1:g.6017_6018del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.200_201del MANE Select ENSP00000164139.3:p.Arg67LeufsTer10
ENST00000164139.3:c.200_201del ENSP00000164139.3:p.Arg67LeufsTer10
ENST00000377432.7:c.200_201del ENSP00000366650.3:p.Arg67LeufsTer10
NM_001164716.1:c.200_201del NP_001158188.1:p.Arg67LeufsTer10
NM_005609.2:c.200_201del NP_005600.1:p.Arg67LeufsTer10
NM_005609.3:c.200_201del NP_005600.1:p.Arg67LeufsTer10
NM_005609.4:c.200_201del MANE Select NP_005600.1:p.Arg67LeufsTer10