Canonical Allele Identifier: CA2574865505

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747270del , CM000673.2:g.64747270del	GRCh38
NC_000011.9:g.64514742del , CM000673.1:g.64514742del	GRCh37
NC_000011.8:g.64271318del	NCBI36
NG_007574.1:g.3189del , LRG_100:g.3189del
NG_013018.1:g.18448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2268del MANE Select	ENSP00000164139.3:p.Asp757ThrfsTer?
ENST00000164139.3:c.2268del	ENSP00000164139.3:p.Asp757ThrfsTer?
ENST00000377432.7:c.2004del	ENSP00000366650.3:p.Asp669ThrfsTer?
ENST00000483742.1:n.1621del
NM_001164716.1:c.2004del	NP_001158188.1:p.Asp669ThrfsTer?
NM_005609.2:c.2268del	NP_005600.1:p.Asp757ThrfsTer?
NM_005609.3:c.2268del	NP_005600.1:p.Asp757ThrfsTer?
NM_005609.4:c.2268del MANE Select	NP_005600.1:p.Asp757ThrfsTer?