Canonical Allele Identifier: CA2136438560

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944429_50944441delinsGGCTGCGCAGAGA , CM000676.2:g.50944429_50944441delinsGGCTGCGCAGAGA	GRCh38
NC_000014.8:g.51411147_51411159delinsGGCTGCGCAGAGA , CM000676.1:g.51411147_51411159delinsGGCTGCGCAGAGA	GRCh37
NC_000014.7:g.50480897_50480909delinsGGCTGCGCAGAGA	NCBI36
NG_012796.1:g.5090_5102delinsTCTCTGCGCAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.-38_-26delinsTCTCTGCGCAGCC MANE Select	ENSP00000216392.7:n.-38_-26delinsTCTCTGCGCAGCC
ENST00000216392.7:c.-38_-26delinsTCTCTGCGCAGCC	ENSP00000216392.7:n.-38_-26delinsTCTCTGCGCAGCC
ENST00000530336.2:n.30_42delinsTCTCTGCGCAGCC
ENST00000532462.5:c.-38_-26delinsTCTCTGCGCAGCC	ENSP00000431657.1:n.-38_-26delinsTCTCTGCGCAGCC
ENST00000544180.6:c.-38_-26delinsTCTCTGCGCAGCC	ENSP00000443787.1:n.-38_-26delinsTCTCTGCGCAGCC
NM_001163940.1:c.-38_-26delinsTCTCTGCGCAGCC	NP_001157412.1:n.-38_-26delinsTCTCTGCGCAGCC
NM_002863.4:c.-38_-26delinsTCTCTGCGCAGCC	NP_002854.3:n.-38_-26delinsTCTCTGCGCAGCC
NM_002863.5:c.-38_-26delinsTCTCTGCGCAGCC MANE Select	NP_002854.3:n.-38_-26delinsTCTCTGCGCAGCC
NM_001163940.2:c.-38_-26delinsTCTCTGCGCAGCC	NP_001157412.1:n.-38_-26delinsTCTCTGCGCAGCC