Canonical Allele Identifier: CA645589806

Gene: PYGL

Linked Data

• COSMIC: COSM6048463

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905526del , CM000676.2:g.50905526del	GRCh38
NC_000014.8:g.51372244del , CM000676.1:g.51372244del	GRCh37
NC_000014.7:g.50441994del	NCBI36
NG_012796.1:g.44009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2414del MANE Select	ENSP00000216392.7:p.Asn805ThrfsTer2
ENST00000216392.7:c.2414del	ENSP00000216392.7:p.Asn805ThrfsTer2
ENST00000532462.5:c.2379+2749del	ENSP00000431657.1:n.2379+2749del
ENST00000544180.6:c.2312del	ENSP00000443787.1:p.Asn771ThrfsTer2
NM_001163940.1:c.2312del	NP_001157412.1:p.Asn771ThrfsTer2
NM_002863.4:c.2414del	NP_002854.3:p.Asn805ThrfsTer2
NM_002863.5:c.2414del MANE Select	NP_002854.3:p.Asn805ThrfsTer2
NM_001163940.2:c.2312del	NP_001157412.1:p.Asn771ThrfsTer2