Canonical Allele Identifier: CA2695219352

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944250_50944252del , CM000676.2:g.50944250_50944252del	GRCh38
NC_000014.8:g.51410968_51410970del , CM000676.1:g.51410968_51410970del	GRCh37
NC_000014.7:g.50480718_50480720del	NCBI36
NG_012796.1:g.5285_5287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.158_160del MANE Select	ENSP00000216392.7:p.Tyr53del
ENST00000216392.7:c.158_160del	ENSP00000216392.7:p.Tyr53del
ENST00000530336.2:n.225_227del
ENST00000532462.5:c.158_160del	ENSP00000431657.1:p.Tyr53del
ENST00000544180.6:c.158_160del	ENSP00000443787.1:p.Tyr53del
NM_001163940.1:c.158_160del	NP_001157412.1:p.Tyr53del
NM_002863.4:c.158_160del	NP_002854.3:p.Tyr53del
NM_002863.5:c.158_160del MANE Select	NP_002854.3:p.Tyr53del
NM_001163940.2:c.158_160del	NP_001157412.1:p.Tyr53del