Canonical Allele Identifier: CA2136415143

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910167_50910171delinsGCATT , CM000676.2:g.50910167_50910171delinsGCATT	GRCh38
NC_000014.8:g.51376885_51376889delinsGCATT , CM000676.1:g.51376885_51376889delinsGCATT	GRCh37
NC_000014.7:g.50446635_50446639delinsGCATT	NCBI36
NG_012796.1:g.39360_39364delinsAATGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-69_1970-65delinsAATGC MANE Select	ENSP00000216392.7:n.1970-69_1970-65delinsAATGC
ENST00000216392.7:c.1970-69_1970-65delinsAATGC	ENSP00000216392.7:n.1970-69_1970-65delinsAATGC
ENST00000532107.2:n.143-69_143-65delinsAATGC
ENST00000532462.5:c.1970-69_1970-65delinsAATGC	ENSP00000431657.1:n.1970-69_1970-65delinsAATGC
ENST00000544180.6:c.1868-69_1868-65delinsAATGC	ENSP00000443787.1:n.1868-69_1868-65delinsAATGC
NM_001163940.1:c.1868-69_1868-65delinsAATGC	NP_001157412.1:n.1868-69_1868-65delinsAATGC
NM_002863.4:c.1970-69_1970-65delinsAATGC	NP_002854.3:n.1970-69_1970-65delinsAATGC
NM_002863.5:c.1970-69_1970-65delinsAATGC MANE Select	NP_002854.3:n.1970-69_1970-65delinsAATGC
NM_001163940.2:c.1868-69_1868-65delinsAATGC	NP_001157412.1:n.1868-69_1868-65delinsAATGC