Canonical Allele Identifier: CA2136414953

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50909983_50910010delinsTGGCCCCATCCATGGTCCCGATAGTTAG , CM000676.2:g.50909983_50910010delinsTGGCCCCATCCATGGTCCCGATAGTTAG	GRCh38
NC_000014.8:g.51376701_51376728delinsTGGCCCCATCCATGGTCCCGATAGTTAG , CM000676.1:g.51376701_51376728delinsTGGCCCCATCCATGGTCCCGATAGTTAG	GRCh37
NC_000014.7:g.50446451_50446478delinsTGGCCCCATCCATGGTCCCGATAGTTAG	NCBI36
NG_012796.1:g.39521_39548delinsCTAACTATCGGGACCATGGATGGGGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2062_2089delinsCTAACTATCGGGACCATGGATGGGGCCA MANE Select	ENSP00000216392.7:p.Leu688=
ENST00000216392.7:c.2062_2089delinsCTAACTATCGGGACCATGGATGGGGCCA	ENSP00000216392.7:p.Leu688=
ENST00000532107.2:n.235_262delinsCTAACTATCGGGACCATGGATGGGGCCA
ENST00000532462.5:c.2062_2089delinsCTAACTATCGGGACCATGGATGGGGCCA	ENSP00000431657.1:p.Leu688=
ENST00000544180.6:c.1960_1987delinsCTAACTATCGGGACCATGGATGGGGCCA	ENSP00000443787.1:p.Leu654=
NM_001163940.1:c.1960_1987delinsCTAACTATCGGGACCATGGATGGGGCCA	NP_001157412.1:p.Leu654=
NM_002863.4:c.2062_2089delinsCTAACTATCGGGACCATGGATGGGGCCA	NP_002854.3:p.Leu688=
NM_002863.5:c.2062_2089delinsCTAACTATCGGGACCATGGATGGGGCCA MANE Select	NP_002854.3:p.Leu688=
NM_001163940.2:c.1960_1987delinsCTAACTATCGGGACCATGGATGGGGCCA	NP_001157412.1:p.Leu654=