Canonical Allele Identifier: CA2573154231
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1682491
ClinVar RCV Id: RCV002237086
dbSNP Id: rs2151930031
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42904002del , CM000679.2:g.42904002del GRCh38
NC_000017.10:g.41056019del , CM000679.1:g.41056019del GRCh37
NC_000017.9:g.38309545del NCBI36
NG_011808.1:g.8205del , LRG_147:g.8205del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.302del MANE Select ENSP00000253801.1:p.Leu101ArgfsTer2
ENST00000253801.6:c.302del ENSP00000253801.1:p.Leu101ArgfsTer2
ENST00000585489.1:c.302del ENSP00000466202.1:p.Leu101ArgfsTer2
ENST00000588481.1:n.367del
ENST00000592383.5:c.302del ENSP00000465958.1:p.Leu101ArgfsTer2
NM_000151.3:c.302del NP_000142.2:p.Leu101ArgfsTer2
NM_001270397.1:c.302del NP_001257326.1:p.Leu101ArgfsTer2
NM_000151.4:c.302del MANE Select NP_000142.2:p.Leu101ArgfsTer2
NM_001270397.2:c.302del NP_001257326.1:p.Leu101ArgfsTer2
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