{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3266346847",
  "communityStandardTitle": [
    "NC_000003.12:g.10141774_10142112dup"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "GCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGC",
          "end": 10142112,
          "referenceAllele": "",
          "start": 10142112
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10141774_10142112dup",
        "CM000665.2:g.10141774_10142112dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "GCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGC",
          "end": 10183796,
          "referenceAllele": "",
          "start": 10183796
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183458_10183796dup",
        "CM000665.1:g.10183458_10183796dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "GCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGC",
          "end": 10158796,
          "referenceAllele": "",
          "start": 10158796
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158458_10158796dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "GCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGC",
          "end": 5478,
          "referenceAllele": "",
          "start": 5478
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5140_5478dup",
        "LRG_322:g.5140_5478dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGC",
          "end": 1105,
          "referenceAllele": "",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.-74_265dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArgIleProArgArgProAlaArgValValTrpIleAlaGluGlyMetProArgArgAlaGluAsnTrpAspGluAlaGluValGlyAlaGluGluAlaGlyValGluGluTyrGlyProGluGluAspGlyGlyGluGluSerGlyAlaGluGluSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrp",
        "hgvsWellDefined": "ENSP00000256474.2:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArgIleProArgArgProAlaArgValValTrpIleAlaGluGlyMetProArgArgAlaGluAsnTrpAspGluAlaGluValGlyAlaGluGluAlaGlyValGluGluTyrGlyProGluGluAspGlyGlyGluGluSerGlyAlaGluGluSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "GCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGC",
          "end": 478,
          "referenceAllele": "",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.-74_265dup",
        "LRG_322t1:c.-74_265dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArgIleProArgArgProAlaArgValValTrpIleAlaGluGlyMetProArgArgAlaGluAsnTrpAspGluAlaGluValGlyAlaGluGluAlaGlyValGluGluTyrGlyProGluGluAspGlyGlyGluGluSerGlyAlaGluGluSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrp",
        "hgvsWellDefined": "NP_000542.1:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArgIleProArgArgProAlaArgValValTrpIleAlaGluGlyMetProArgArgAlaGluAsnTrpAspGluAlaGluValGlyAlaGluGluAlaGlyValGluGluTyrGlyProGluGluAspGlyGlyGluGluSerGlyAlaGluGluSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "GCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGC",
          "end": 478,
          "referenceAllele": "",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.-74_265dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArgIleProArgArgProAlaArgValValTrpIleAlaGluGlyMetProArgArgAlaGluAsnTrpAspGluAlaGluValGlyAlaGluGluAlaGlyValGluGluTyrGlyProGluGluAspGlyGlyGluGluSerGlyAlaGluGluSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrp",
        "hgvsWellDefined": "NP_937799.1:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArgIleProArgArgProAlaArgValValTrpIleAlaGluGlyMetProArgArgAlaGluAsnTrpAspGluAlaGluValGlyAlaGluGluAlaGlyValGluGluTyrGlyProGluGluAspGlyGlyGluGluSerGlyAlaGluGluSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "GCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGC",
          "end": 350,
          "referenceAllele": "",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.-74_265dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArgIleProArgArgProAlaArgValValTrpIleAlaGluGlyMetProArgArgAlaGluAsnTrpAspGluAlaGluValGlyAlaGluGluAlaGlyValGluGluTyrGlyProGluGluAspGlyGlyGluGluSerGlyAlaGluGluSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrp",
        "hgvsWellDefined": "XP_011532380.1:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArgIleProArgArgProAlaArgValValTrpIleAlaGluGlyMetProArgArgAlaGluAsnTrpAspGluAlaGluValGlyAlaGluGluAlaGlyValGluGluTyrGlyProGluGluAspGlyGlyGluGluSerGlyAlaGluGluSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "GCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGC",
          "end": 478,
          "referenceAllele": "",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.-74_265dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArgIleProArgArgProAlaArgValValTrpIleAlaGluGlyMetProArgArgAlaGluAsnTrpAspGluAlaGluValGlyAlaGluGluAlaGlyValGluGluTyrGlyProGluGluAspGlyGlyGluGluSerGlyAlaGluGluSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrp",
        "hgvsWellDefined": "NP_001341652.1:p.Trp88_Leu89insArgThrGlnLeuArgProAlaSerAspProArgIleProArgArgProAlaArgValValTrpIleAlaGluGlyMetProArgArgAlaGluAsnTrpAspGluAlaGluValGlyAlaGluGluAlaGlyValGluGluTyrGlyProGluGluAspGlyGlyGluGluSerGlyAlaGluGluSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    }
  ],
  "type": "nucleotide"
}