{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA020197",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.263G>A (p.Trp88Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=18070",
        "active": true,
        "id": "COSM18070"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180116[alleleid]",
        "alleleId": 180116,
        "preferredName": "NM_000551.4(VHL):c.263G>A (p.Trp88Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/182978",
        "RCV": [
          "RCV000161086",
          "RCV000208798",
          "RCV000492395",
          "RCV001382231"
        ],
        "variationId": 182978
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10183794G>A?assembly=hg19",
        "id": "chr3:g.10183794G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10142110G>A?assembly=hg38",
        "id": "chr3:g.10142110G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119103277",
        "rs": 119103277
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10142110,
          "referenceAllele": "G",
          "start": 10142109
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10142110G>A",
        "CM000665.2:g.10142110G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10183794,
          "referenceAllele": "G",
          "start": 10183793
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183794G>A",
        "CM000665.1:g.10183794G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10158794,
          "referenceAllele": "G",
          "start": 10158793
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158794G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5476,
          "referenceAllele": "G",
          "start": 5475
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5476G>A",
        "LRG_322:g.5476G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 325,
          "referenceAllele": "G",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Trp88Ter",
        "hgvsWellDefined": "ENSP00000512434.1:p.Trp88_Glu193delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 263,
          "referenceAllele": "G",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Trp88Ter",
        "hgvsWellDefined": "ENSP00000512435.1:p.Trp88_Glu193delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Trp88Ter",
        "hgvsWellDefined": "ENSP00000512444.1:p.Trp88_Asp250delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProGluSerHisCysValThrGlnAlaGlyValGlnTrpArgValIleLeuAlaHisCysAsnLeuCysLeuSerGlySerSerAspSerProAlaSerAlaAlaGlyThrThrValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Trp88Ter",
        "hgvsWellDefined": "ENSP00000256474.3:p.Trp88_Asp213delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.263G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.263G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Trp88Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Trp88Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1103,
          "referenceAllele": "G",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Trp88Ter",
        "hgvsWellDefined": "ENSP00000256474.2:p.Trp88_Asp213delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 323,
          "referenceAllele": "G",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Trp88Ter",
        "hgvsWellDefined": "ENSP00000344757.2:p.Trp88_Asp172delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA300452",
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.263G>A",
        "LRG_322t1:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Trp88Ter",
        "hgvsWellDefined": "NP_000542.1:p.Trp88_Asp213delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645464115",
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Trp88Ter",
        "hgvsWellDefined": "NP_937799.1:p.Trp88_Asp172delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Trp88Ter",
        "hgvsWellDefined": "XP_011532380.1:p.Trp88_Glu193delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827926834",
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Trp88Ter",
        "hgvsWellDefined": "NP_001341652.1:p.Trp88_Glu193delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA300452",
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Trp88Ter",
        "hgvsWellDefined": "NP_000542.1:p.Trp88_Asp213delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.263G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.263G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Trp88Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Trp88Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827926834",
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Trp88Ter",
        "hgvsWellDefined": "NP_001341652.1:p.Trp88_Glu193delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645464115",
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.263G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Trp88Ter",
        "hgvsWellDefined": "NP_937799.1:p.Trp88_Asp172delinsLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}