{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658683075",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.263_265delinsTT (p.Trp88PhefsTer?)"
  ],
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        {
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
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      ],
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        "CM000665.1:g.10183794_10183796delinsTT"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
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      ],
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
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        "LRG_322:g.5476_5478delinsTT"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
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      ],
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      "hgvs": [
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        "hgvsWellDefined": "ENSP00000512434.1:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Pro118delinsThrAlaThrGluSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
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        {
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          "start": 262
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      ],
      "gene": "http://reg.genome.network/gene/GN012687",
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      "geneSymbol": "VHL",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000512435.1:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Pro118delinsThrAlaThrGluSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
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      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Trp88PhefsTer?",
        "hgvsWellDefined": "ENSP00000512444.1:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Leu118delinsThrAlaThrGluValThrPheGlySer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
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      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Trp88PhefsTer?",
        "hgvsWellDefined": "ENSP00000256474.3:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Leu118delinsThrAlaThrGluValThrPheGlySer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Trp88PhefsTer?"
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          "RefSeq": {
            "hgvs": "NP_000542.1:p.Trp88PhefsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.263_265delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Trp88PhefsTer?",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Leu118delinsThrAlaThrGluValThrPheGlySer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
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          "referenceAllele": "GGC",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.263_265delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Trp88PhefsTer30",
        "hgvsWellDefined": "ENSP00000344757.2:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Lys118delinsThrAlaThrGluCysIleLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
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          "referenceAllele": "GGC",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.263_265delinsTT",
        "LRG_322t1:c.263_265delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Trp88PhefsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Leu118delinsThrAlaThrGluValThrPheGlySer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
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          "referenceAllele": "GGC",
          "start": 475
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      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.263_265delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Trp88PhefsTer30",
        "hgvsWellDefined": "NP_937799.1:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Lys118delinsThrAlaThrGluCysIleLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
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          "referenceAllele": "GGC",
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      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.263_265delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Trp88PhefsTer29",
        "hgvsWellDefined": "XP_011532380.1:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Pro118delinsThrAlaThrGluSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
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          "end": 478,
          "referenceAllele": "GGC",
          "start": 475
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      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.263_265delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Trp88PhefsTer29",
        "hgvsWellDefined": "NP_001341652.1:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Pro118delinsThrAlaThrGluSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.263_265delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Trp88PhefsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Leu118delinsThrAlaThrGluValThrPheGlySer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.263_265delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.263_265delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Trp88PhefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Trp88PhefsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN012687",
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      "hgvs": [
        "NM_001354723.2:c.263_265delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Trp88PhefsTer29",
        "hgvsWellDefined": "NP_001341652.1:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Pro118delinsThrAlaThrGluSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.263_265delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Trp88PhefsTer30",
        "hgvsWellDefined": "NP_937799.1:p.[Trp88_Gln96delinsPheSerThrSerThrAlaSerArgSer;Tyr98_Pro99del;Leu101_Gly106delinsGlnArgCysArgLeuAla;Arg108_His110delinsAlaAlaAla;Tyr112_Lys118delinsThrAlaThrGluCysIleLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}