Canonical Allele Identifier: CA2136411116

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905379_50905392delinsACAATTCTAGAGTT , CM000676.2:g.50905379_50905392delinsACAATTCTAGAGTT	GRCh38
NC_000014.8:g.51372097_51372110delinsACAATTCTAGAGTT , CM000676.1:g.51372097_51372110delinsACAATTCTAGAGTT	GRCh37
NC_000014.7:g.50441847_50441860delinsACAATTCTAGAGTT	NCBI36
NG_012796.1:g.44139_44152delinsAACTCTAGAATTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2544_*13delinsAACTCTAGAATTGT MANE Select	ENSP00000216392.7:n.[c.2544_*13delinsAACTCTAGAATTGT;Ter848=]
ENST00000216392.7:c.2544_*13delinsAACTCTAGAATTGT	ENSP00000216392.7:n.[c.2544_*13delinsAACTCTAGAATTGT;Ter848=]
ENST00000532462.5:c.2379+2879_2379+2892delinsAACTCTAGAATTGT	ENSP00000431657.1:n.2379+2879_2379+2892delinsAACTCTAGAATTGT
ENST00000544180.6:c.2442_*13delinsAACTCTAGAATTGT	ENSP00000443787.1:n.[c.2442_*13delinsAACTCTAGAATTGT;Ter814=]
NM_001163940.1:c.2442_*13delinsAACTCTAGAATTGT	NP_001157412.1:n.[c.2442_*13delinsAACTCTAGAATTGT;Ter814=]
NM_002863.4:c.2544_*13delinsAACTCTAGAATTGT	NP_002854.3:n.[c.2544_*13delinsAACTCTAGAATTGT;Ter848=]
NM_002863.5:c.2544_*13delinsAACTCTAGAATTGT MANE Select	NP_002854.3:n.[c.2544_*13delinsAACTCTAGAATTGT;Ter848=]
NM_001163940.2:c.2442_*13delinsAACTCTAGAATTGT	NP_001157412.1:n.[c.2442_*13delinsAACTCTAGAATTGT;Ter814=]