Canonical Allele Identifier: CA2136415159

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910207_50910219delinsCATGCACATTAAG , CM000676.2:g.50910207_50910219delinsCATGCACATTAAG	GRCh38
NC_000014.8:g.51376925_51376937delinsCATGCACATTAAG , CM000676.1:g.51376925_51376937delinsCATGCACATTAAG	GRCh37
NC_000014.7:g.50446675_50446687delinsCATGCACATTAAG	NCBI36
NG_012796.1:g.39312_39324delinsCTTAATGTGCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-117_1970-105delinsCTTAATGTGCATG MANE Select	ENSP00000216392.7:n.1970-117_1970-105delinsCTTAATGTGCATG
ENST00000216392.7:c.1970-117_1970-105delinsCTTAATGTGCATG	ENSP00000216392.7:n.1970-117_1970-105delinsCTTAATGTGCATG
ENST00000532107.2:n.143-117_143-105delinsCTTAATGTGCATG
ENST00000532462.5:c.1970-117_1970-105delinsCTTAATGTGCATG	ENSP00000431657.1:n.1970-117_1970-105delinsCTTAATGTGCATG
ENST00000544180.6:c.1868-117_1868-105delinsCTTAATGTGCATG	ENSP00000443787.1:n.1868-117_1868-105delinsCTTAATGTGCATG
NM_001163940.1:c.1868-117_1868-105delinsCTTAATGTGCATG	NP_001157412.1:n.1868-117_1868-105delinsCTTAATGTGCATG
NM_002863.4:c.1970-117_1970-105delinsCTTAATGTGCATG	NP_002854.3:n.1970-117_1970-105delinsCTTAATGTGCATG
NM_002863.5:c.1970-117_1970-105delinsCTTAATGTGCATG MANE Select	NP_002854.3:n.1970-117_1970-105delinsCTTAATGTGCATG
NM_001163940.2:c.1868-117_1868-105delinsCTTAATGTGCATG	NP_001157412.1:n.1868-117_1868-105delinsCTTAATGTGCATG