{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621910",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.294C>G (p.Tyr98Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=14325",
        "active": true,
        "id": "COSM14325"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=613568[alleleid]",
        "alleleId": 613568,
        "preferredName": "NM_000551.4(VHL):c.294C>G (p.Tyr98Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/625235",
        "RCV": [
          "RCV000767254"
        ],
        "variationId": 625235
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10183825C>G?assembly=hg19",
        "id": "chr3:g.10183825C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10142141C>G?assembly=hg38",
        "id": "chr3:g.10142141C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1559426115",
        "rs": 1559426115
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 10142141,
          "referenceAllele": "C",
          "start": 10142140
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10142141C>G",
        "CM000665.2:g.10142141C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 10183825,
          "referenceAllele": "C",
          "start": 10183824
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183825C>G",
        "CM000665.1:g.10183825C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 10158825,
          "referenceAllele": "C",
          "start": 10158824
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158825C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5507,
          "referenceAllele": "C",
          "start": 5506
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5507C>G",
        "LRG_322:g.5507C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "referenceAllele": "C",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Tyr98Ter",
        "hgvsWellDefined": "ENSP00000512434.1:p.Tyr98_Glu193delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 294,
          "referenceAllele": "C",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Tyr98Ter",
        "hgvsWellDefined": "ENSP00000512435.1:p.Tyr98_Glu193delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Tyr98Ter",
        "hgvsWellDefined": "ENSP00000512444.1:p.Tyr98_Asp250delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProGluSerHisCysValThrGlnAlaGlyValGlnTrpArgValIleLeuAlaHisCysAsnLeuCysLeuSerGlySerSerAspSerProAlaSerAlaAlaGlyThrThrValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Tyr98Ter",
        "hgvsWellDefined": "ENSP00000256474.3:p.Tyr98_Asp213delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.294C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.294C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Tyr98Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Tyr98Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Tyr98Ter",
        "hgvsWellDefined": "ENSP00000256474.2:p.Tyr98_Asp213delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Tyr98Ter",
        "hgvsWellDefined": "ENSP00000344757.2:p.Tyr98_Asp172delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913197429",
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.294C>G",
        "LRG_322t1:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Tyr98Ter",
        "hgvsWellDefined": "NP_000542.1:p.Tyr98_Asp213delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057391",
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Tyr98Ter",
        "hgvsWellDefined": "NP_937799.1:p.Tyr98_Asp172delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Tyr98Ter",
        "hgvsWellDefined": "XP_011532380.1:p.Tyr98_Glu193delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827926886",
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Tyr98Ter",
        "hgvsWellDefined": "NP_001341652.1:p.Tyr98_Glu193delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913197429",
      "coordinates": [
        {
          "allele": "G",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Tyr98Ter",
        "hgvsWellDefined": "NP_000542.1:p.Tyr98_Asp213delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.294C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.294C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Tyr98Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Tyr98Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827926886",
      "coordinates": [
        {
          "allele": "G",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Tyr98Ter",
        "hgvsWellDefined": "NP_001341652.1:p.Tyr98_Glu193delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057391",
      "coordinates": [
        {
          "allele": "G",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Tyr98Ter",
        "hgvsWellDefined": "NP_937799.1:p.Tyr98_Asp172delinsProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}