Canonical Allele Identifier: CA2136415036

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910043_50910044delinsTC , CM000676.2:g.50910043_50910044delinsTC	GRCh38
NC_000014.8:g.51376761_51376762delinsTC , CM000676.1:g.51376761_51376762delinsTC	GRCh37
NC_000014.7:g.50446511_50446512delinsTC	NCBI36
NG_012796.1:g.39487_39488delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2028_2029delinsGA MANE Select	ENSP00000216392.7:p.Gly676=
ENST00000216392.7:c.2028_2029delinsGA	ENSP00000216392.7:p.Gly676=
ENST00000532107.2:n.201_202delinsGA
ENST00000532462.5:c.2028_2029delinsGA	ENSP00000431657.1:p.Gly676=
ENST00000544180.6:c.1926_1927delinsGA	ENSP00000443787.1:p.Gly642=
NM_001163940.1:c.1926_1927delinsGA	NP_001157412.1:p.Gly642=
NM_002863.4:c.2028_2029delinsGA	NP_002854.3:p.Gly676=
NM_002863.5:c.2028_2029delinsGA MANE Select	NP_002854.3:p.Gly676=
NM_001163940.2:c.1926_1927delinsGA	NP_001157412.1:p.Gly642=