Canonical Allele Identifier: CA2574865533
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747437del , CM000673.2:g.64747437del GRCh38
NC_000011.9:g.64514909del , CM000673.1:g.64514909del GRCh37
NC_000011.8:g.64271485del NCBI36
NG_007574.1:g.3020del , LRG_100:g.3020del
NG_013018.1:g.18279del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2178-79del MANE Select ENSP00000164139.3:n.2178-79del
ENST00000164139.3:c.2178-79del ENSP00000164139.3:n.2178-79del
ENST00000377432.7:c.1914-79del ENSP00000366650.3:n.1914-79del
ENST00000483742.1:n.1452del
NM_001164716.1:c.1914-79del NP_001158188.1:n.1914-79del
NM_005609.2:c.2178-79del NP_005600.1:n.2178-79del
NM_005609.3:c.2178-79del NP_005600.1:n.2178-79del
NM_005609.4:c.2178-79del MANE Select NP_005600.1:n.2178-79del
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