Canonical Allele Identifier: CA2136438351

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944066_50944076delinsCCACTCTGAGG , CM000676.2:g.50944066_50944076delinsCCACTCTGAGG	GRCh38
NC_000014.8:g.51410784_51410794delinsCCACTCTGAGG , CM000676.1:g.51410784_51410794delinsCCACTCTGAGG	GRCh37
NC_000014.7:g.50480534_50480544delinsCCACTCTGAGG	NCBI36
NG_012796.1:g.5455_5465delinsCCTCAGAGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.243+85_243+95delinsCCTCAGAGTGG MANE Select	ENSP00000216392.7:n.243+85_243+95delinsCCTCAGAGTGG
ENST00000216392.7:c.243+85_243+95delinsCCTCAGAGTGG	ENSP00000216392.7:n.243+85_243+95delinsCCTCAGAGTGG
ENST00000530336.2:n.310+85_310+95delinsCCTCAGAGTGG
ENST00000532462.5:c.243+85_243+95delinsCCTCAGAGTGG	ENSP00000431657.1:n.243+85_243+95delinsCCTCAGAGTGG
ENST00000544180.6:c.243+85_243+95delinsCCTCAGAGTGG	ENSP00000443787.1:n.243+85_243+95delinsCCTCAGAGTGG
NM_001163940.1:c.243+85_243+95delinsCCTCAGAGTGG	NP_001157412.1:n.243+85_243+95delinsCCTCAGAGTGG
NM_002863.4:c.243+85_243+95delinsCCTCAGAGTGG	NP_002854.3:n.243+85_243+95delinsCCTCAGAGTGG
NM_002863.5:c.243+85_243+95delinsCCTCAGAGTGG MANE Select	NP_002854.3:n.243+85_243+95delinsCCTCAGAGTGG
NM_001163940.2:c.243+85_243+95delinsCCTCAGAGTGG	NP_001157412.1:n.243+85_243+95delinsCCTCAGAGTGG