{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2664399907",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.113_157del (p.Ser38Ter)"
  ],
  "externalRecords": {
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10141959-TCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGG-T?dataset=gnomad_r4",
        "id": "3-10141959-TCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGG-T",
        "variant": "3:10141959 TCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGG / T"
      }
    ]
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      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "CCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGG",
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    },
    {
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        {
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
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    {
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        {
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
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        }
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      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
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        }
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        "hgvsWellDefined": "ENSP00000256474.3:p.Ser38_Asp213delinsGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrpLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
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            "hgvs": "NM_000551.4:c.113_157del"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Ser38Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "CCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGG",
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      "gene": "http://reg.genome.network/gene/GN012687",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000256474.2:p.Ser38_Asp213delinsGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrpLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
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          "referenceAllele": "CCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGG",
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        }
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000344757.2:p.Ser38_Asp172delinsGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrpLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
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        "hgvsWellDefined": "NP_937799.1:p.Ser38_Asp172delinsGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrpLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "CCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGG",
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        }
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        "hgvsWellDefined": "XP_011532380.1:p.Ser38_Glu193delinsGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrpLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
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          "referenceAllele": "CCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGG",
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        }
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      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
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        "hgvsWellDefined": "NP_001341652.1:p.Ser38_Glu193delinsGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrpLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
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        }
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000542.1:p.Ser38_Asp213delinsGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrpLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgGlyHisLeuTrpLeuPheArgAspAlaGlyThrHisAspGlyLeuLeuValAsnGlnThrGluLeuPheValProSerLeuAsnValAspGlyGlnProIlePheAlaAsnIleThrLeuProValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
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          "RefSeq": {
            "hgvs": "NM_000551.4:c.113_157del"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000256474.3:p.Ser38Ter"
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          "RefSeq": {
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          }
        }
      }
    },
    {
      "coordinates": [
        {
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        "hgvsWellDefined": "NP_001341652.1:p.Ser38_Glu193delinsGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrpLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValLeuMetThrProValGlyGlnPheCysValValProAlaLeuValGluAsnThrPheLeuLeuGlyArgLeuThrAspAlaLysThrGlyThrSerGlnGlyHisValGlyAlaGlyArgAlaAspArgValTrpArgGlyLysLeuThrTyrLeuProAlaGlyArgTrpArgGlyCysGlyCysValValSerValLysGluHisPheProGluLysGluGluSerArgMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_937799.1:p.Ser38_Asp172delinsGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGluGluMetGluAlaGlyArgProArgProValLeuArgSerValAsnSerArgGluProSerGlnValIlePheCysAsnArgSerProArgValValLeuProValTrpLeuAsnPheAspGlyGluProGlnProTyrProThrLeuProProGlyThrGlyArgArgIleHisSerTyrArgValTyrThrLeuLysGluArgCysLeuGlnValValArgSerLeuValLysProGluAsnTyrArgArgLeuAspIleValArgSerLeuTyrGluAspLeuGluAspHisProAsnValGlnLysAspLeuGluArgLeuThrGlnGluArgIleAlaHisGlnArgMetGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}