Canonical Allele Identifier: CA7183934
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 558815
ClinVar RCV Id: RCV000675376 RCV003117483
dbSNP Id: rs561479231
ExAC: 14:51411128 GGCGGCGGGCTGC / G
gnomAD v2: 14-51411128-GGCGGCGGGCTGC-G
gnomAD v3: 14-50944410-GGCGGCGGGCTGC-G
gnomAD v4: 14-50944410-GGCGGCGGGCTGC-G
MyVariant Identifiers: chr14:g.51411139_51411150del (hg19) chr14:g.51411129_51411140del (hg19) chr14:g.50944422_50944433del (hg38) chr14:g.50944412_50944423del (hg38) chr14:g.50944411_50944422del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944425_50944436del , CM000676.2:g.50944425_50944436del GRCh38
NC_000014.8:g.51411143_51411154del , CM000676.1:g.51411143_51411154del GRCh37
NC_000014.7:g.50480893_50480904del NCBI36
NG_012796.1:g.5109_5120del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.-19_-8del MANE Select ENSP00000216392.7:n.-19_-8del
ENST00000216392.7:c.-19_-8del ENSP00000216392.7:n.-19_-8del
ENST00000530336.2:n.49_60del
ENST00000532462.5:c.-19_-8del ENSP00000431657.1:n.-19_-8del
ENST00000544180.6:c.-19_-8del ENSP00000443787.1:n.-19_-8del
NM_001163940.1:c.-19_-8del NP_001157412.1:n.-19_-8del
NM_002863.4:c.-19_-8del NP_002854.3:n.-19_-8del
NM_002863.5:c.-19_-8del MANE Select NP_002854.3:n.-19_-8del
NM_001163940.2:c.-19_-8del NP_001157412.1:n.-19_-8del
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