Canonical Allele Identifier: CA2136411119

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905380_50905381delinsCA , CM000676.2:g.50905380_50905381delinsCA	GRCh38
NC_000014.8:g.51372098_51372099delinsCA , CM000676.1:g.51372098_51372099delinsCA	GRCh37
NC_000014.7:g.50441848_50441849delinsCA	NCBI36
NG_012796.1:g.44150_44151delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*11_*12delinsTG MANE Select	ENSP00000216392.7:n.*11_*12delinsTG
ENST00000216392.7:c.*11_*12delinsTG	ENSP00000216392.7:n.*11_*12delinsTG
ENST00000532462.5:c.2379+2890_2379+2891delinsTG	ENSP00000431657.1:n.2379+2890_2379+2891delinsTG
ENST00000544180.6:c.*11_*12delinsTG	ENSP00000443787.1:n.*11_*12delinsTG
NM_001163940.1:c.*11_*12delinsTG	NP_001157412.1:n.*11_*12delinsTG
NM_002863.4:c.*11_*12delinsTG	NP_002854.3:n.*11_*12delinsTG
NM_002863.5:c.*11_*12delinsTG MANE Select	NP_002854.3:n.*11_*12delinsTG
NM_001163940.2:c.*11_*12delinsTG	NP_001157412.1:n.*11_*12delinsTG