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          "end": 11304,
          "referenceAllele": "",
          "start": 11304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.11072dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Cys3691TrpfsTer2",
        "hgvsWellDefined": "XP_016876028.1:p.[Cys3691_Leu3697del;Thr3699_Asp3720del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11747,
          "referenceAllele": "",
          "start": 11747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.11108dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Cys3703TrpfsTer2",
        "hgvsWellDefined": "XP_024305105.1:p.[Cys3703_Leu3709del;Thr3711_Asp3732del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11670,
          "referenceAllele": "",
          "start": 11670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.11081dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Cys3694TrpfsTer2",
        "hgvsWellDefined": "NP_055178.3:p.[Cys3694_Leu3700del;Thr3702_Asp3723del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.11081dup"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.11081dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Cys3694TrpfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Cys3694TrpfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11130,
          "referenceAllele": "",
          "start": 11130
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      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.10640dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Cys3547TrpfsTer2",
        "hgvsWellDefined": "NP_001264984.1:p.[Cys3547_Leu3553del;Thr3555_Asp3576del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}