Canonical Allele Identifier: CA2136411102

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905364_50905366delinsCTA , CM000676.2:g.50905364_50905366delinsCTA	GRCh38
NC_000014.8:g.51372082_51372084delinsCTA , CM000676.1:g.51372082_51372084delinsCTA	GRCh37
NC_000014.7:g.50441832_50441834delinsCTA	NCBI36
NG_012796.1:g.44165_44167delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*26_*28delinsTAG MANE Select	ENSP00000216392.7:n.*26_*28delinsTAG
ENST00000216392.7:c.*26_*28delinsTAG	ENSP00000216392.7:n.*26_*28delinsTAG
ENST00000532462.5:c.2379+2905_2379+2907delinsTAG	ENSP00000431657.1:n.2379+2905_2379+2907delinsTAG
ENST00000544180.6:c.*26_*28delinsTAG	ENSP00000443787.1:n.*26_*28delinsTAG
NM_001163940.1:c.*26_*28delinsTAG	NP_001157412.1:n.*26_*28delinsTAG
NM_002863.4:c.*26_*28delinsTAG	NP_002854.3:n.*26_*28delinsTAG
NM_002863.5:c.*26_*28delinsTAG MANE Select	NP_002854.3:n.*26_*28delinsTAG
NM_001163940.2:c.*26_*28delinsTAG	NP_001157412.1:n.*26_*28delinsTAG