Canonical Allele Identifier: CA2739270519

Gene: PYGM

Linked Data

• ClinVar Variation Id: 2810133
• ClinVar RCV Id: RCV003604166

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759833_64759855del , CM000673.2:g.64759833_64759855del	GRCh38
NC_000011.9:g.64527305_64527327del , CM000673.1:g.64527305_64527327del	GRCh37
NC_000011.8:g.64283881_64283903del	NCBI36
NG_013018.1:g.5862_5884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.45_67del MANE Select	ENSP00000164139.3:p.Ser15ArgfsTer5
ENST00000164139.3:c.45_67del	ENSP00000164139.3:p.Ser15ArgfsTer5
ENST00000377432.7:c.45_67del	ENSP00000366650.3:p.Ser15ArgfsTer5
NM_001164716.1:c.45_67del	NP_001158188.1:p.Ser15ArgfsTer5
NM_005609.2:c.45_67del	NP_005600.1:p.Ser15ArgfsTer5
NM_005609.3:c.45_67del	NP_005600.1:p.Ser15ArgfsTer5
NM_005609.4:c.45_67del MANE Select	NP_005600.1:p.Ser15ArgfsTer5