Canonical Allele Identifier: CA2624827208

Gene: PYGL

Linked Data

• gnomAD v4: 14-50910069-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910072del , CM000676.2:g.50910072del	GRCh38
NC_000014.8:g.51376790del , CM000676.1:g.51376790del	GRCh37
NC_000014.7:g.50446540del	NCBI36
NG_012796.1:g.39461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2002del MANE Select	ENSP00000216392.7:p.Ser668ProfsTer13
ENST00000216392.7:c.2002del	ENSP00000216392.7:p.Ser668ProfsTer13
ENST00000532107.2:n.175del
ENST00000532462.5:c.2002del	ENSP00000431657.1:p.Ser668ProfsTer13
ENST00000544180.6:c.1900del	ENSP00000443787.1:p.Ser634ProfsTer13
NM_001163940.1:c.1900del	NP_001157412.1:p.Ser634ProfsTer13
NM_002863.4:c.2002del	NP_002854.3:p.Ser668ProfsTer13
NM_002863.5:c.2002del MANE Select	NP_002854.3:p.Ser668ProfsTer13
NM_001163940.2:c.1900del	NP_001157412.1:p.Ser634ProfsTer13