{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2695230857",
  "communityStandardTitle": [
    "NM_006941.4(SOX10):c.126_127delinsTT (p.Leu43Ter)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "AA",
          "end": 37983659,
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    },
    {
      "chromosome": "22",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
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      ],
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    },
    {
      "coordinates": [
        {
          "allele": "TT",
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      ],
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        "LRG_271:g.5874_5875delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000716"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "start": 997
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      ],
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      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909201"
    },
    {
      "coordinates": [
        {
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          "start": 542
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832898"
    },
    {
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        {
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          "start": 426
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
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        },
        "protein": {
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          "RefSeq": {
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          }
        }
      }
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    {
      "coordinates": [
        {
          "allele": "TT",
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          "start": 414
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      "geneSymbol": "SOX10",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS772161"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265281"
    },
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      "geneSymbol": "POLR2F",
      "hgvs": [
        "NM_001301131.2:c.293+16488_293+16489delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288060.1:n.293+16488_293+16489delinsAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683357"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 428,
          "referenceAllele": "GC",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "NM_006941.4:c.126_127delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_008872.1:p.Leu43Ter",
        "hgvsWellDefined": "NP_008872.1:p.Arg43_Pro466delinsAlaSerProGlyProGlyGluLeuGlyLysValLysLysGluGlnGlnAspGlyGluAlaAspAspAspLysPheProValCysIleArgGluAlaValSerGlnValLeuSerGlyTyrAspTrpThrLeuValProMetProValArgValAsnGlyAlaSerLysSerLysProHisValLysArgProMetAsnAlaPheMetValTrpAlaGlnAlaAlaArgArgLysLeuAlaAspGlnTyrProHisLeuHisAsnAlaGluLeuSerLysThrLeuGlyLysLeuTrpArgLeuLeuAsnGluSerAspLysArgProPheIleGluGluAlaGluArgLeuArgMetGlnHisLysLysAspHisProAspTyrLysTyrGlnProArgArgArgLysAsnGlyLysAlaAlaGlnGlyGluAlaGluCysProGlyGlyGluAlaGluGlnGlyGlyThrAlaAlaIleGlnAlaHisTyrLysSerAlaHisLeuAspHisArgHisProGlyGluGlySerProMetSerAspGlyAsnProGluHisProSerGlyGlnSerHisGlyProProThrProProThrThrProLysThrGluLeuGlnSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696861",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396884.8:c.126_127delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_006941.4:c.126_127delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380093.2:p.Leu43Ter"
          },
          "RefSeq": {
            "hgvs": "NP_008872.1:p.Leu43Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}