Canonical Allele Identifier: CA2792428708

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64752715del , CM000673.2:g.64752715del	GRCh38
NC_000011.9:g.64520187del , CM000673.1:g.64520187del	GRCh37
NC_000011.8:g.64276763del	NCBI36
NG_013018.1:g.13004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1519-208del MANE Select	ENSP00000164139.3:n.1519-208del
ENST00000164139.3:c.1519-208del	ENSP00000164139.3:n.1519-208del
ENST00000377432.7:c.1255-208del	ENSP00000366650.3:n.1255-208del
NM_001164716.1:c.1255-208del	NP_001158188.1:n.1255-208del
NM_005609.2:c.1519-208del	NP_005600.1:n.1519-208del
NM_005609.3:c.1519-208del	NP_005600.1:n.1519-208del
NM_005609.4:c.1519-208del MANE Select	NP_005600.1:n.1519-208del