Canonical Allele Identifier: CA2624827922

Gene: PYGL

Linked Data

• gnomAD v4: 14-50920944-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50920945del , CM000676.2:g.50920945del	GRCh38
NC_000014.8:g.51387663del , CM000676.1:g.51387663del	GRCh37
NC_000014.7:g.50457413del	NCBI36
NG_012796.1:g.28586del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.772+11del MANE Select	ENSP00000216392.7:n.772+11del
ENST00000216392.7:c.772+11del	ENSP00000216392.7:n.772+11del
ENST00000532462.5:c.772+11del	ENSP00000431657.1:n.772+11del
ENST00000544180.6:c.670+11del	ENSP00000443787.1:n.670+11del
ENST00000553872.1:n.573+11del
NM_001163940.1:c.670+11del	NP_001157412.1:n.670+11del
NM_002863.4:c.772+11del	NP_002854.3:n.772+11del
NM_002863.5:c.772+11del MANE Select	NP_002854.3:n.772+11del
NM_001163940.2:c.670+11del	NP_001157412.1:n.670+11del