Canonical Allele Identifier: CA2574865527

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747422del , CM000673.2:g.64747422del	GRCh38
NC_000011.9:g.64514894del , CM000673.1:g.64514894del	GRCh37
NC_000011.8:g.64271470del	NCBI36
NG_007574.1:g.3038del , LRG_100:g.3038del
NG_013018.1:g.18297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-61del MANE Select	ENSP00000164139.3:n.2178-61del
ENST00000164139.3:c.2178-61del	ENSP00000164139.3:n.2178-61del
ENST00000377432.7:c.1914-61del	ENSP00000366650.3:n.1914-61del
ENST00000483742.1:n.1470del
NM_001164716.1:c.1914-61del	NP_001158188.1:n.1914-61del
NM_005609.2:c.2178-61del	NP_005600.1:n.2178-61del
NM_005609.3:c.2178-61del	NP_005600.1:n.2178-61del
NM_005609.4:c.2178-61del MANE Select	NP_005600.1:n.2178-61del