Canonical Allele Identifier: CA7183082
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 258828
ClinVar RCV Id: RCV000248244 RCV000276048 RCV000675358
dbSNP Id: rs3216001
ExAC: 14:51372098 CA / C
gnomAD v2: 14-51372098-CA-C
gnomAD v3: 14-50905380-CA-C
gnomAD v4: 14-50905380-CA-C
COSMIC: COSN20111252 COSN20111253
MyVariant Identifiers: chr14:g.51372099del (hg19) chr14:g.50905382del (hg38) chr14:g.50905381del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905382del , CM000676.2:g.50905382del GRCh38
NC_000014.8:g.51372100del , CM000676.1:g.51372100del GRCh37
NC_000014.7:g.50441850del NCBI36
NG_012796.1:g.44150del

Transcript Alleles

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