Canonical Allele Identifier: CA2695219353

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944258dup , CM000676.2:g.50944258dup	GRCh38
NC_000014.8:g.51410976dup , CM000676.1:g.51410976dup	GRCh37
NC_000014.7:g.50480726dup	NCBI36
NG_012796.1:g.5275dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.148dup MANE Select	ENSP00000216392.7:p.Arg50ProfsTer?
ENST00000216392.7:c.148dup	ENSP00000216392.7:p.Arg50ProfsTer?
ENST00000530336.2:n.215dup
ENST00000532462.5:c.148dup	ENSP00000431657.1:p.Arg50ProfsTer?
ENST00000544180.6:c.148dup	ENSP00000443787.1:p.Arg50ProfsTer?
NM_001163940.1:c.148dup	NP_001157412.1:p.Arg50ProfsTer?
NM_002863.4:c.148dup	NP_002854.3:p.Arg50ProfsTer?
NM_002863.5:c.148dup MANE Select	NP_002854.3:p.Arg50ProfsTer?
NM_001163940.2:c.148dup	NP_001157412.1:p.Arg50ProfsTer?