Canonical Allele Identifier: CA2831038818

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753542_64753546dup , CM000673.2:g.64753542_64753546dup	GRCh38
NC_000011.9:g.64521014_64521018dup , CM000673.1:g.64521014_64521018dup	GRCh37
NC_000011.8:g.64277590_64277594dup	NCBI36
NG_013018.1:g.12173_12177dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1379_1383dup MANE Select	ENSP00000164139.3:p.Glu462ThrfsTer?
ENST00000164139.3:c.1379_1383dup	ENSP00000164139.3:p.Glu462ThrfsTer?
ENST00000377432.7:c.1115_1119dup	ENSP00000366650.3:p.Glu374ThrfsTer?
NM_001164716.1:c.1115_1119dup	NP_001158188.1:p.Glu374ThrfsTer?
NM_005609.2:c.1379_1383dup	NP_005600.1:p.Glu462ThrfsTer?
NM_005609.3:c.1379_1383dup	NP_005600.1:p.Glu462ThrfsTer?
NM_005609.4:c.1379_1383dup MANE Select	NP_005600.1:p.Glu462ThrfsTer?