Canonical Allele Identifier: CA2574864937

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64758613del , CM000673.2:g.64758613del	GRCh38
NC_000011.9:g.64526085del , CM000673.1:g.64526085del	GRCh37
NC_000011.8:g.64282661del	NCBI36
NG_013018.1:g.7104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.336del MANE Select	ENSP00000164139.3:p.Thr113ProfsTer?
ENST00000164139.3:c.336del	ENSP00000164139.3:p.Thr113ProfsTer?
ENST00000377432.7:c.244-346del	ENSP00000366650.3:n.244-346del
NM_001164716.1:c.244-346del	NP_001158188.1:n.244-346del
NM_005609.2:c.336del	NP_005600.1:p.Thr113ProfsTer?
NM_005609.3:c.336del	NP_005600.1:p.Thr113ProfsTer?
NM_005609.4:c.336del MANE Select	NP_005600.1:p.Thr113ProfsTer?