Canonical Allele Identifier: CA916083248
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 848029
ClinVar RCV Id: RCV001051694
dbSNP Id: rs2058421657
gnomAD v4: 11-64759748-CTCGTGGGGTGGCCACATTGCGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759751_64759772del , CM000673.2:g.64759751_64759772del GRCh38
NC_000011.9:g.64527223_64527244del , CM000673.1:g.64527223_64527244del GRCh37
NC_000011.8:g.64283799_64283820del NCBI36
NG_013018.1:g.5946_5967del

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.129_150del MANE Select ENSP00000164139.3:p.Asp43GlufsTer?
ENST00000164139.3:c.129_150del ENSP00000164139.3:p.Asp43GlufsTer?
ENST00000377432.7:c.129_150del ENSP00000366650.3:p.Asp43GlufsTer?
NM_001164716.1:c.129_150del NP_001158188.1:p.Asp43GlufsTer?
NM_005609.2:c.129_150del NP_005600.1:p.Asp43GlufsTer?
NM_005609.3:c.129_150del NP_005600.1:p.Asp43GlufsTer?
NM_005609.4:c.129_150del MANE Select NP_005600.1:p.Asp43GlufsTer?
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