{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3266346865",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.161_269del (p.Met54ThrfsTer?)"
  ],
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    {
      "chromosome": "3",
      "coordinates": [
        {
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          "start": 10142007
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      ],
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        "NC_000003.12:g.10142008_10142116del",
        "CM000665.2:g.10142008_10142116del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
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          "end": 10183800,
          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 10183691
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183692_10183800del",
        "CM000665.1:g.10183692_10183800del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10158800,
          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 10158691
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158692_10158800del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5482,
          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 5373
        }
      ],
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        "NG_008212.3:g.5374_5482del",
        "LRG_322:g.5374_5482del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
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        {
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          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 222
        }
      ],
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      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.161_269del"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.161_269del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Met54ThrfsTer27",
        "hgvsWellDefined": "ENSP00000512435.1:p.[Met54_Arg64delinsThr;Val66_Asn67delinsThrAla;Glu70Ser;Ser72Thr;Val74_Phe76delinsArg;Asn78del;Ser80_Pro81delinsLeuAla;Val83_Pro99delinsAlaAlaAlaSer;Leu101_Gly104delinsAla;Gly106_His110delinsGluSer;Tyr112_Val119del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.161_269del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Met54ThrfsTer?",
        "hgvsWellDefined": "ENSP00000512444.1:p.[Met54_Arg64delinsThr;Val66_Asn67delinsThrAla;Glu70Ser;Ser72Thr;Val74_Phe76delinsArg;Asn78del;Ser80_Pro81delinsLeuAla;Val83_Gly93delinsAlaAlaAlaSerThrAlaThr;Pro95_Pro99delinsVal;Leu101_Pro103delinsPhe;Thr105_His110delinsSer;Tyr112_Phe119del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 339,
          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.161_269del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Met54ThrfsTer?",
        "hgvsWellDefined": "ENSP00000256474.3:p.[Met54_Arg64delinsThr;Val66_Asn67delinsThrAla;Glu70Ser;Ser72Thr;Val74_Phe76delinsArg;Asn78del;Ser80_Pro81delinsLeuAla;Val83_Gly93delinsAlaAlaAlaSerThrAlaThr;Pro95_Pro99delinsVal;Leu101_Pro103delinsPhe;Thr105_His110delinsSer;Tyr112_Phe119del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.161_269del"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.161_269del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Met54ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Met54ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1109,
          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.161_269del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Met54ThrfsTer?",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Met54_Arg64delinsThr;Val66_Asn67delinsThrAla;Glu70Ser;Ser72Thr;Val74_Phe76delinsArg;Asn78del;Ser80_Pro81delinsLeuAla;Val83_Gly93delinsAlaAlaAlaSerThrAlaThr;Pro95_Pro99delinsVal;Leu101_Pro103delinsPhe;Thr105_His110delinsSer;Tyr112_Phe119del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 329,
          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.161_269del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Met54ThrfsTer28",
        "hgvsWellDefined": "ENSP00000344757.2:p.[Met54_Arg64delinsThr;Val66_Asn67delinsThrAla;Glu70Ser;Ser72Thr;Val74_Phe76delinsArg;Asn78del;Ser80_Pro81delinsLeuAla;Val83_Pro99delinsAlaAlaAlaSer;Leu101_Gly104delinsAla;Gly106_Arg108delinsGluCys;His110_Thr116del;Lys118_Glu119del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 482,
          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.161_269del",
        "LRG_322t1:c.161_269del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Met54ThrfsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Met54_Arg64delinsThr;Val66_Asn67delinsThrAla;Glu70Ser;Ser72Thr;Val74_Phe76delinsArg;Asn78del;Ser80_Pro81delinsLeuAla;Val83_Gly93delinsAlaAlaAlaSerThrAlaThr;Pro95_Pro99delinsVal;Leu101_Pro103delinsPhe;Thr105_His110delinsSer;Tyr112_Phe119del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 482,
          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.161_269del"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Met54ThrfsTer28",
        "hgvsWellDefined": "NP_937799.1:p.[Met54_Arg64delinsThr;Val66_Asn67delinsThrAla;Glu70Ser;Ser72Thr;Val74_Phe76delinsArg;Asn78del;Ser80_Pro81delinsLeuAla;Val83_Pro99delinsAlaAlaAlaSer;Leu101_Gly104delinsAla;Gly106_Arg108delinsGluCys;His110_Thr116del;Lys118_Glu119del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 354,
          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.161_269del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Met54ThrfsTer27",
        "hgvsWellDefined": "XP_011532380.1:p.[Met54_Arg64delinsThr;Val66_Asn67delinsThrAla;Glu70Ser;Ser72Thr;Val74_Phe76delinsArg;Asn78del;Ser80_Pro81delinsLeuAla;Val83_Pro99delinsAlaAlaAlaSer;Leu101_Gly104delinsAla;Gly106_His110delinsGluSer;Tyr112_Val119del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 482,
          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.161_269del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Met54ThrfsTer27",
        "hgvsWellDefined": "NP_001341652.1:p.[Met54_Arg64delinsThr;Val66_Asn67delinsThrAla;Glu70Ser;Ser72Thr;Val74_Phe76delinsArg;Asn78del;Ser80_Pro81delinsLeuAla;Val83_Pro99delinsAlaAlaAlaSer;Leu101_Gly104delinsAla;Gly106_His110delinsGluSer;Tyr112_Val119del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.161_269del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Met54ThrfsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Met54_Arg64delinsThr;Val66_Asn67delinsThrAla;Glu70Ser;Ser72Thr;Val74_Phe76delinsArg;Asn78del;Ser80_Pro81delinsLeuAla;Val83_Gly93delinsAlaAlaAlaSerThrAlaThr;Pro95_Pro99delinsVal;Leu101_Pro103delinsPhe;Thr105_His110delinsSer;Tyr112_Phe119del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.161_269del"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.161_269del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Met54ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Met54ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.161_269del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Met54ThrfsTer27",
        "hgvsWellDefined": "NP_001341652.1:p.[Met54_Arg64delinsThr;Val66_Asn67delinsThrAla;Glu70Ser;Ser72Thr;Val74_Phe76delinsArg;Asn78del;Ser80_Pro81delinsLeuAla;Val83_Pro99delinsAlaAlaAlaSer;Leu101_Gly104delinsAla;Gly106_His110delinsGluSer;Tyr112_Val119del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "TGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAA",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.161_269del"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Met54ThrfsTer28",
        "hgvsWellDefined": "NP_937799.1:p.[Met54_Arg64delinsThr;Val66_Asn67delinsThrAla;Glu70Ser;Ser72Thr;Val74_Phe76delinsArg;Asn78del;Ser80_Pro81delinsLeuAla;Val83_Pro99delinsAlaAlaAlaSer;Leu101_Gly104delinsAla;Gly106_Arg108delinsGluCys;His110_Thr116del;Lys118_Glu119del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}