Canonical Allele Identifier: CA614275203
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 2736111
ClinVar RCV Id: RCV003513626
dbSNP Id: rs1463812837
gnomAD v2: 14-51410890-TGTC-T
gnomAD v3: 14-50944172-TGTC-T
gnomAD v4: 14-50944172-TGTC-T
MyVariant Identifiers: chr14:g.51410891_51410893del (hg19) chr14:g.50944173_50944175del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944175_50944177del , CM000676.2:g.50944175_50944177del GRCh38
NC_000014.8:g.51410893_51410895del , CM000676.1:g.51410893_51410895del GRCh37
NC_000014.7:g.50480643_50480645del NCBI36
NG_012796.1:g.5356_5358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.229_231del MANE Select ENSP00000216392.7:p.Asp77del
ENST00000216392.7:c.229_231del ENSP00000216392.7:p.Asp77del
ENST00000530336.2:n.296_298del
ENST00000532462.5:c.229_231del ENSP00000431657.1:p.Asp77del
ENST00000544180.6:c.229_231del ENSP00000443787.1:p.Asp77del
NM_001163940.1:c.229_231del NP_001157412.1:p.Asp77del
NM_002863.4:c.229_231del NP_002854.3:p.Asp77del
NM_002863.5:c.229_231del MANE Select NP_002854.3:p.Asp77del
NM_001163940.2:c.229_231del NP_001157412.1:p.Asp77del
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