{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3266346844",
  "communityStandardTitle": [
    "NC_000003.12:g.10141773_10142082dup"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 10142082,
          "referenceAllele": "",
          "start": 10142082
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10141773_10142082dup",
        "CM000665.2:g.10141773_10142082dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 10183766,
          "referenceAllele": "",
          "start": 10183766
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183457_10183766dup",
        "CM000665.1:g.10183457_10183766dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 10158766,
          "referenceAllele": "",
          "start": 10158766
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158457_10158766dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 5448,
          "referenceAllele": "",
          "start": 5448
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5139_5448dup",
        "LRG_322:g.5139_5448dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 1075,
          "referenceAllele": "",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.-75_235dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Arg79ProfsTer51",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Arg79_Ser80delinsProHisAlaAla;Pro81dup;Val84_Leu85delinsArgProAlaAsp;Val87_Phe91delinsAlaAlaSerGlyProGlyGlyLeu;Asp92_Gly93insArg;Glu94_Gln96delinsGlyAsnAla;Tyr98_Thr100delinsGluGlyGlyGlu;Pro102_Pro103delinsGlyArg;Thr105Arg;Arg108_Ile109insGlyGlyGlyArgArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.-75_235dup",
        "LRG_322t1:c.-75_235dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Arg79ProfsTer51",
        "hgvsWellDefined": "NP_000542.1:p.[Arg79_Ser80delinsProHisAlaAla;Pro81dup;Val84_Leu85delinsArgProAlaAsp;Val87_Phe91delinsAlaAlaSerGlyProGlyGlyLeu;Asp92_Gly93insArg;Glu94_Gln96delinsGlyAsnAla;Tyr98_Thr100delinsGluGlyGlyGlu;Pro102_Pro103delinsGlyArg;Thr105Arg;Arg108_Ile109insGlyGlyGlyArgArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.-75_235dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Arg79ProfsTer51",
        "hgvsWellDefined": "NP_937799.1:p.[Arg79_Ser80delinsProHisAlaAla;Pro81dup;Val84_Leu85delinsArgProAlaAsp;Val87_Phe91delinsAlaAlaSerGlyProGlyGlyLeu;Asp92_Gly93insArg;Glu94_Gln96delinsGlyAsnAla;Tyr98_Thr100delinsGluGlyGlyGlu;Pro102_Pro103delinsGlyArg;Thr105Arg;Arg108_Ile109insGlyGlyGlyArgArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 320,
          "referenceAllele": "",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.-75_235dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Arg79ProfsTer51",
        "hgvsWellDefined": "XP_011532380.1:p.[Arg79_Ser80delinsProHisAlaAla;Pro81dup;Val84_Leu85delinsArgProAlaAsp;Val87_Phe91delinsAlaAlaSerGlyProGlyGlyLeu;Asp92_Gly93insArg;Glu94_Gln96delinsGlyAsnAla;Tyr98_Thr100delinsGluGlyGlyGlu;Pro102_Pro103delinsGlyArg;Thr105Arg;Arg108_Ile109insGlyGlyGlyArgArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.-75_235dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Arg79ProfsTer51",
        "hgvsWellDefined": "NP_001341652.1:p.[Arg79_Ser80delinsProHisAlaAla;Pro81dup;Val84_Leu85delinsArgProAlaAsp;Val87_Phe91delinsAlaAlaSerGlyProGlyGlyLeu;Asp92_Gly93insArg;Glu94_Gln96delinsGlyAsnAla;Tyr98_Thr100delinsGluGlyGlyGlu;Pro102_Pro103delinsGlyArg;Thr105Arg;Arg108_Ile109insGlyGlyGlyArgArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    }
  ],
  "type": "nucleotide"
}