{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3266346841",
  "communityStandardTitle": [
    "NC_000003.12:g.10141776_10142091dup"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "ACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGC",
          "end": 10142091,
          "referenceAllele": "",
          "start": 10142091
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10141776_10142091dup",
        "CM000665.2:g.10141776_10142091dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "ACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGC",
          "end": 10183775,
          "referenceAllele": "",
          "start": 10183775
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183460_10183775dup",
        "CM000665.1:g.10183460_10183775dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "ACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGC",
          "end": 10158775,
          "referenceAllele": "",
          "start": 10158775
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158460_10158775dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "ACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGC",
          "end": 5457,
          "referenceAllele": "",
          "start": 5457
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5142_5457dup",
        "LRG_322:g.5142_5457dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "ACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGC",
          "end": 1084,
          "referenceAllele": "",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.-72_244dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Arg82HisfsTer50",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Pro81_Arg82insHisAlaAlaProPro;Val84_Leu85delinsArgProAlaAsp;Val87_Phe91delinsAlaAlaSerGlyProGlyGlyLeu;Asp92_Gly93insArg;Glu94_Gln96delinsGlyAsnAla;Tyr98_Thr100delinsGluGlyGlyGlu;Pro102_Pro103delinsGlyArg;Thr105Arg;Ile109_Ser111delinsGlyGlyGlyArgArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "ACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGC",
          "end": 457,
          "referenceAllele": "",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.-72_244dup",
        "LRG_322t1:c.-72_244dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Arg82HisfsTer50",
        "hgvsWellDefined": "NP_000542.1:p.[Pro81_Arg82insHisAlaAlaProPro;Val84_Leu85delinsArgProAlaAsp;Val87_Phe91delinsAlaAlaSerGlyProGlyGlyLeu;Asp92_Gly93insArg;Glu94_Gln96delinsGlyAsnAla;Tyr98_Thr100delinsGluGlyGlyGlu;Pro102_Pro103delinsGlyArg;Thr105Arg;Ile109_Ser111delinsGlyGlyGlyArgArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "ACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGC",
          "end": 457,
          "referenceAllele": "",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.-72_244dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Arg82HisfsTer50",
        "hgvsWellDefined": "NP_937799.1:p.[Pro81_Arg82insHisAlaAlaProPro;Val84_Leu85delinsArgProAlaAsp;Val87_Phe91delinsAlaAlaSerGlyProGlyGlyLeu;Asp92_Gly93insArg;Glu94_Gln96delinsGlyAsnAla;Tyr98_Thr100delinsGluGlyGlyGlu;Pro102_Pro103delinsGlyArg;Thr105Arg;Ile109_Ser111delinsGlyGlyGlyArgArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "ACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGC",
          "end": 329,
          "referenceAllele": "",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.-72_244dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Arg82HisfsTer50",
        "hgvsWellDefined": "XP_011532380.1:p.[Pro81_Arg82insHisAlaAlaProPro;Val84_Leu85delinsArgProAlaAsp;Val87_Phe91delinsAlaAlaSerGlyProGlyGlyLeu;Asp92_Gly93insArg;Glu94_Gln96delinsGlyAsnAla;Tyr98_Thr100delinsGluGlyGlyGlu;Pro102_Pro103delinsGlyArg;Thr105Arg;Ile109_Ser111delinsGlyGlyGlyArgArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "ACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGC",
          "end": 457,
          "referenceAllele": "",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.-72_244dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Arg82HisfsTer50",
        "hgvsWellDefined": "NP_001341652.1:p.[Pro81_Arg82insHisAlaAlaProPro;Val84_Leu85delinsArgProAlaAsp;Val87_Phe91delinsAlaAlaSerGlyProGlyGlyLeu;Asp92_Gly93insArg;Glu94_Gln96delinsGlyAsnAla;Tyr98_Thr100delinsGluGlyGlyGlu;Pro102_Pro103delinsGlyArg;Thr105Arg;Ile109_Ser111delinsGlyGlyGlyArgArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    }
  ],
  "type": "nucleotide"
}