{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399650240",
  "communityStandardTitle": [
    "NM_000151.4(G6PC1):c.69C>G (p.Tyr23Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1630205",
        "active": true,
        "id": "COSM1630205"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2985342[alleleid]",
        "alleleId": 2985342,
        "preferredName": "NM_000151.4(G6PC1):c.69C>G (p.Tyr23Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2821689",
        "RCV": [
          "RCV003625355"
        ],
        "variationId": 2821689
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41052962C>G?assembly=hg19",
        "id": "chr17:g.41052962C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42900945C>G?assembly=hg38",
        "id": "chr17:g.42900945C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1597986791",
        "rs": 1597986791
      }
    ]
  },
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    },
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      "chromosome": "17",
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    },
    {
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      "referenceGenome": "NCBI36",
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS001991"
    }
  ],
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    {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741623",
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            "hgvs": "NM_000151.4:c.69C>G"
          }
        },
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    {
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      "geneNCBI_id": 2538,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "referenceAllele": "C",
          "start": 145
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      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000585489.1:c.69C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000466202.1:p.Tyr23_Leu163delinsGlnAspSerGlnAspTrpPheIleLeuValSerValIleAlaAspLeuArgAsnAlaPheTyrValLeuPheProIleTrpPheHisLeuGlnGluAlaValGlyIleLysLeuLeuTrpValAlaValIleGlyAspTrpLeuAsnLeuValPheLysTrpIleLeuPheGlyGlnArgProTyrTrpTrpValLeuAspThrAspTyrTyrSerAsnThrSerValProLeuIleLysGlnPheProValThrCysGluThrGlyProGlySerProSerGlyHisAlaMetGlyThrAlaGlyValTyrTyrValMetValThrSerThrLeuSerIlePheGlnGlyLysIleLysProThrTyrArgPheArgHisCysCysCysArgAsnPheGlnProHisProGlnHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388755"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 134,
          "referenceAllele": "C",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000588481.1:n.134C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390806"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149,
          "referenceAllele": "C",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000592383.5:c.69C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465958.1:p.Tyr23Ter",
        "hgvsWellDefined": "ENSP00000465958.1:p.Tyr23_Leu176delinsGlnAspSerGlnAspTrpPheIleLeuValSerValIleAlaAspLeuArgAsnAlaPheTyrValLeuPheProIleTrpPheHisLeuGlnGluAlaValGlyIleLysLeuLeuTrpValAlaValIleGlyAspTrpLeuAsnLeuValPheLysTrpIleLeuPheGlyGlnArgProTyrTrpTrpValLeuAspThrAspTyrTyrSerAsnThrSerValProLeuIleLysGlnPheProValThrCysGluThrGlyProGlyLysAspLysAlaAspLeuGlnIleSerValLeuGluCysHisPheValValGlyIleLeuGlyCysAlaAlaGluCysLeuSerValThrAsnLeuProCysCysSerPheSerSerSerSerCysCysTrpSerProValArgHisCysCysCysArgAsnPheGlnProHisProGlnHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825064484",
      "coordinates": [
        {
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          "end": 149,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.3:c.69C>G"
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      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Tyr23Ter",
        "hgvsWellDefined": "NP_000142.2:p.Tyr23_Leu357delinsGlnAspSerGlnAspTrpPheIleLeuValSerValIleAlaAspLeuArgAsnAlaPheTyrValLeuPheProIleTrpPheHisLeuGlnGluAlaValGlyIleLysLeuLeuTrpValAlaValIleGlyAspTrpLeuAsnLeuValPheLysTrpIleLeuPheGlyGlnArgProTyrTrpTrpValLeuAspThrAspTyrTyrSerAsnThrSerValProLeuIleLysGlnPheProValThrCysGluThrGlyProGlySerProSerGlyHisAlaMetGlyThrAlaGlyValTyrTyrValMetValThrSerThrLeuSerIlePheGlnGlyLysIleLysProThrTyrArgPheArgCysLeuAsnValIleLeuTrpLeuGlyPheTrpAlaValGlnLeuAsnValCysLeuSerArgIleTyrLeuAlaAlaHisPheProHisGlnValValAlaGlyValLeuSerGlyIleAlaValAlaGluThrPheSerHisIleHisSerIleTyrAsnAlaSerLeuLysLysTyrPheLeuIleThrPhePheLeuPheSerPheAlaIleGlyPheTyrLeuLeuLeuLysGlyLeuGlyValAspLeuLeuTrpThrLeuGluLysAlaGlnArgTrpCysGluGlnProGluTrpValHisIleAspThrThrProPheAlaSerLeuLeuLysAsnLeuGlyThrLeuPheGlyLeuGlyLeuAlaLeuAsnSerSerMetTyrArgGluSerCysLysGlyLysLeuSerLysTrpLeuProPheArgLeuSerSerIleValAlaSerLeuValLeuLeuHisValPheAspSerLeuLysProProSerGlnValGluLeuValPheTyrValLeuSerPheCysLysSerAlaValValProLeuAlaSerValSerValIleProTyrCysLeuAlaGlnValLeuGlyGlnProHisLysLysSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741850028",
      "coordinates": [
        {
          "allele": "G",
          "end": 149,
          "referenceAllele": "C",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.1:c.69C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:p.Tyr23Ter",
        "hgvsWellDefined": "NP_001257326.1:p.Tyr23_Leu176delinsGlnAspSerGlnAspTrpPheIleLeuValSerValIleAlaAspLeuArgAsnAlaPheTyrValLeuPheProIleTrpPheHisLeuGlnGluAlaValGlyIleLysLeuLeuTrpValAlaValIleGlyAspTrpLeuAsnLeuValPheLysTrpIleLeuPheGlyGlnArgProTyrTrpTrpValLeuAspThrAspTyrTyrSerAsnThrSerValProLeuIleLysGlnPheProValThrCysGluThrGlyProGlyLysAspLysAlaAspLeuGlnIleSerValLeuGluCysHisPheValValGlyIleLeuGlyCysAlaAlaGluCysLeuSerValThrAsnLeuProCysCysSerPheSerSerSerSerCysCysTrpSerProValArgHisCysCysCysArgAsnPheGlnProHisProGlnHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825064484",
      "coordinates": [
        {
          "allele": "G",
          "end": 147,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.4:c.69C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Tyr23Ter",
        "hgvsWellDefined": "NP_000142.2:p.Tyr23_Leu357delinsGlnAspSerGlnAspTrpPheIleLeuValSerValIleAlaAspLeuArgAsnAlaPheTyrValLeuPheProIleTrpPheHisLeuGlnGluAlaValGlyIleLysLeuLeuTrpValAlaValIleGlyAspTrpLeuAsnLeuValPheLysTrpIleLeuPheGlyGlnArgProTyrTrpTrpValLeuAspThrAspTyrTyrSerAsnThrSerValProLeuIleLysGlnPheProValThrCysGluThrGlyProGlySerProSerGlyHisAlaMetGlyThrAlaGlyValTyrTyrValMetValThrSerThrLeuSerIlePheGlnGlyLysIleLysProThrTyrArgPheArgCysLeuAsnValIleLeuTrpLeuGlyPheTrpAlaValGlnLeuAsnValCysLeuSerArgIleTyrLeuAlaAlaHisPheProHisGlnValValAlaGlyValLeuSerGlyIleAlaValAlaGluThrPheSerHisIleHisSerIleTyrAsnAlaSerLeuLysLysTyrPheLeuIleThrPhePheLeuPheSerPheAlaIleGlyPheTyrLeuLeuLeuLysGlyLeuGlyValAspLeuLeuTrpThrLeuGluLysAlaGlnArgTrpCysGluGlnProGluTrpValHisIleAspThrThrProPheAlaSerLeuLeuLysAsnLeuGlyThrLeuPheGlyLeuGlyLeuAlaLeuAsnSerSerMetTyrArgGluSerCysLysGlyLysLeuSerLysTrpLeuProPheArgLeuSerSerIleValAlaSerLeuValLeuLeuHisValPheAspSerLeuLysProProSerGlnValGluLeuValPheTyrValLeuSerPheCysLysSerAlaValValProLeuAlaSerValSerValIleProTyrCysLeuAlaGlnValLeuGlyGlnProHisLysLysSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.69C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.69C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Tyr23Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Tyr23Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741850028",
      "coordinates": [
        {
          "allele": "G",
          "end": 147,
          "referenceAllele": "C",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.2:c.69C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:p.Tyr23Ter",
        "hgvsWellDefined": "NP_001257326.1:p.Tyr23_Leu176delinsGlnAspSerGlnAspTrpPheIleLeuValSerValIleAlaAspLeuArgAsnAlaPheTyrValLeuPheProIleTrpPheHisLeuGlnGluAlaValGlyIleLysLeuLeuTrpValAlaValIleGlyAspTrpLeuAsnLeuValPheLysTrpIleLeuPheGlyGlnArgProTyrTrpTrpValLeuAspThrAspTyrTyrSerAsnThrSerValProLeuIleLysGlnPheProValThrCysGluThrGlyProGlyLysAspLysAlaAspLeuGlnIleSerValLeuGluCysHisPheValValGlyIleLeuGlyCysAlaAlaGluCysLeuSerValThrAsnLeuProCysCysSerPheSerSerSerSerCysCysTrpSerProValArgHisCysCysCysArgAsnPheGlnProHisProGlnHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681003"
    }
  ],
  "type": "nucleotide"
}