Canonical Allele Identifier: CA2624829433

Gene: PYGL

Linked Data

• gnomAD v4: 14-50944211-CCAGGTGGTCGCGCACCGTGTGCGCCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944213_50944239del , CM000676.2:g.50944213_50944239del	GRCh38
NC_000014.8:g.51410931_51410957del , CM000676.1:g.51410931_51410957del	GRCh37
NC_000014.7:g.50480681_50480707del	NCBI36
NG_012796.1:g.5293_5319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.166_192del MANE Select	ENSP00000216392.7:p.Leu56_Leu64del
ENST00000216392.7:c.166_192del	ENSP00000216392.7:p.Leu56_Leu64del
ENST00000530336.2:n.233_259del
ENST00000532462.5:c.166_192del	ENSP00000431657.1:p.Leu56_Leu64del
ENST00000544180.6:c.166_192del	ENSP00000443787.1:p.Leu56_Leu64del
NM_001163940.1:c.166_192del	NP_001157412.1:p.Leu56_Leu64del
NM_002863.4:c.166_192del	NP_002854.3:p.Leu56_Leu64del
NM_002863.5:c.166_192del MANE Select	NP_002854.3:p.Leu56_Leu64del
NM_001163940.2:c.166_192del	NP_001157412.1:p.Leu56_Leu64del