Canonical Allele Identifier: CA2575525118

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905437del , CM000676.2:g.50905437del	GRCh38
NC_000014.8:g.51372155del , CM000676.1:g.51372155del	GRCh37
NC_000014.7:g.50441905del	NCBI36
NG_012796.1:g.44096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2501del MANE Select	ENSP00000216392.7:p.Lys834ArgfsTer17
ENST00000216392.7:c.2501del	ENSP00000216392.7:p.Lys834ArgfsTer17
ENST00000532462.5:c.2379+2836del	ENSP00000431657.1:n.2379+2836del
ENST00000544180.6:c.2399del	ENSP00000443787.1:p.Lys800ArgfsTer17
NM_001163940.1:c.2399del	NP_001157412.1:p.Lys800ArgfsTer17
NM_002863.4:c.2501del	NP_002854.3:p.Lys834ArgfsTer17
NM_002863.5:c.2501del MANE Select	NP_002854.3:p.Lys834ArgfsTer17
NM_001163940.2:c.2399del	NP_001157412.1:p.Lys800ArgfsTer17