{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3266346827",
  "communityStandardTitle": [
    "NC_000003.12:g.10141773_10142187dup"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAG",
          "end": 10142187,
          "referenceAllele": "",
          "start": 10142187
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10141773_10142187dup",
        "CM000665.2:g.10141773_10142187dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAG",
          "end": 10183871,
          "referenceAllele": "",
          "start": 10183871
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183457_10183871dup",
        "CM000665.1:g.10183457_10183871dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAG",
          "end": 10158871,
          "referenceAllele": "",
          "start": 10158871
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158457_10158871dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAG",
          "end": 5553,
          "referenceAllele": "",
          "start": 5553
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5139_5553dup",
        "LRG_322:g.5139_5553dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAG",
          "end": 1180,
          "referenceAllele": "",
          "start": 1180,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.-75_340dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Gly114AlafsTer51",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Gly114Ala;Leu116_Phe119delinsAlaAlaProPro;Arg120_Asp121insValArgProAla;Asp121_Ala122insPro;Gly123_Asp126delinsAlaSerGlyPro;Leu128Gly;Val130delinsAspArgGlyGly;Gln132_Thr133delinsAlaPro;Glu134_Leu135insGlyGlyGlu;Phe136_Asn141delinsGlyArgGlyArgGlyArgArgGlyGlyGlyArgArgArgArg;Asp143delinsArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAG",
          "end": 553,
          "referenceAllele": "",
          "start": 553,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.-75_340dup",
        "LRG_322t1:c.-75_340dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Gly114AlafsTer51",
        "hgvsWellDefined": "NP_000542.1:p.[Gly114Ala;Leu116_Phe119delinsAlaAlaProPro;Arg120_Asp121insValArgProAla;Asp121_Ala122insPro;Gly123_Asp126delinsAlaSerGlyPro;Leu128Gly;Val130delinsAspArgGlyGly;Gln132_Thr133delinsAlaPro;Glu134_Leu135insGlyGlyGlu;Phe136_Asn141delinsGlyArgGlyArgGlyArgArgGlyGlyGlyArgArgArgArg;Asp143delinsArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAG",
          "end": 553,
          "referenceAllele": "",
          "start": 553,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.-75_340dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Val114AlafsTer51",
        "hgvsWellDefined": "NP_937799.1:p.[Val114_Glu119delinsAlaHisAlaAlaProPro;Cys121_Arg126delinsValArgProAlaAspProAlaAla;Ser127_Leu128insGlyProGlyGly;Val129_Lys130delinsAspArgGlyGlyAsnAla;Asn133_Tyr134delinsGlyGlyGluLeuGly;Arg135_Arg136insGly;Leu137_Val140delinsGlyArgArgGlyGlyGly;Ser142_Leu143delinsArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAG",
          "end": 425,
          "referenceAllele": "",
          "start": 425,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.-75_340dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Val114AlafsTer51",
        "hgvsWellDefined": "XP_011532380.1:p.[Val114_Thr117delinsAlaHisAlaAla;Val119_Val125delinsProArgValArgProAlaAsp;Ala127_Leu128insAlaSerGlyProGlyGly;Val129_Glu130delinsAspArgGlyGly;Thr132_Leu134delinsAlaProGluGlyGlyGlu;Leu138_Thr143delinsGlyArgGlyArgArgGlyGlyGlyArgArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "CGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAG",
          "end": 553,
          "referenceAllele": "",
          "start": 553,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.-75_340dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Val114AlafsTer51",
        "hgvsWellDefined": "NP_001341652.1:p.[Val114_Thr117delinsAlaHisAlaAla;Val119_Val125delinsProArgValArgProAlaAsp;Ala127_Leu128insAlaSerGlyProGlyGly;Val129_Glu130delinsAspArgGlyGly;Thr132_Leu134delinsAlaProGluGlyGlyGlu;Leu138_Thr143delinsGlyArgGlyArgArgGlyGlyGlyArgArgArgArgValArgPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    }
  ],
  "type": "nucleotide"
}