Canonical Allele Identifier: CA7183080
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 2064013
ClinVar RCV Id: RCV002943142
dbSNP Id: rs752100457
ExAC: 14:51372097 ACAATTCTAGAGTT / A
gnomAD v2: 14-51372097-ACAATTCTAGAGTT-A
gnomAD v3: 14-50905379-ACAATTCTAGAGTT-A
gnomAD v4: 14-50905379-ACAATTCTAGAGTT-A
MyVariant Identifiers: chr14:g.51372098_51372110del (hg19) chr14:g.50905381_50905393del (hg38) chr14:g.50905380_50905392del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905385_50905397del , CM000676.2:g.50905385_50905397del GRCh38
NC_000014.8:g.51372103_51372115del , CM000676.1:g.51372103_51372115del GRCh37
NC_000014.7:g.50441853_50441865del NCBI36
NG_012796.1:g.44139_44151del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2544_*12del MANE Select ENSP00000216392.7:n.[c.2544_*12del;Ter848CysextTer3]
ENST00000216392.7:c.2544_*12del ENSP00000216392.7:n.[c.2544_*12del;Ter848CysextTer3]
ENST00000532462.5:c.2379+2879_2379+2891del ENSP00000431657.1:n.2379+2879_2379+2891del
ENST00000544180.6:c.2442_*12del ENSP00000443787.1:n.[c.2442_*12del;Ter814CysextTer3]
NM_001163940.1:c.2442_*12del NP_001157412.1:n.[c.2442_*12del;Ter814CysextTer3]
NM_002863.4:c.2544_*12del NP_002854.3:n.[c.2544_*12del;Ter848CysextTer3]
NM_002863.5:c.2544_*12del MANE Select NP_002854.3:n.[c.2544_*12del;Ter848CysextTer3]
NM_001163940.2:c.2442_*12del NP_001157412.1:n.[c.2442_*12del;Ter814CysextTer3]
Search 100 bp 5'
Search 100 bp 3'