Canonical Allele Identifier: CA2574865465
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747167del , CM000673.2:g.64747167del GRCh38
NC_000011.9:g.64514639del , CM000673.1:g.64514639del GRCh37
NC_000011.8:g.64271215del NCBI36
NG_007574.1:g.3290del , LRG_100:g.3290del
NG_013018.1:g.18549del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2312+57del MANE Select ENSP00000164139.3:n.2312+57del
ENST00000164139.3:c.2312+57del ENSP00000164139.3:n.2312+57del
ENST00000377432.7:c.2048+57del ENSP00000366650.3:n.2048+57del
ENST00000483742.1:n.1665+57del
NM_001164716.1:c.2048+57del NP_001158188.1:n.2048+57del
NM_005609.2:c.2312+57del NP_005600.1:n.2312+57del
NM_005609.3:c.2312+57del NP_005600.1:n.2312+57del
NM_005609.4:c.2312+57del MANE Select NP_005600.1:n.2312+57del