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      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516014.2:c.1004dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514316.1:p.Pro336ThrfsTer12",
        "hgvsWellDefined": "XP_011514316.1:p.[Pro336_Leu337delinsThr;Thr339_Pro346del;Ala348_Pro352delinsTyrThr;Pro354_Arg360delinsThrThrGly;Pro362_Pro364delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10737,
          "referenceAllele": "",
          "start": 10737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516017.2:c.530dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514319.1:p.Pro178ThrfsTer12",
        "hgvsWellDefined": "XP_011514319.1:p.[Pro178_Leu179delinsThr;Thr181_Pro188del;Ala190_Pro194delinsTyrThr;Pro196_Arg202delinsThrThrGly;Pro204_Pro206delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 718,
          "referenceAllele": "",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_011516018.2:c.503dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514320.1:p.Pro169ThrfsTer12",
        "hgvsWellDefined": "XP_011514320.1:p.[Pro169_Leu170delinsThr;Thr172_Pro179del;Ala181_Pro185delinsTyrThr;Pro187_Arg193delinsThrThrGly;Pro195_Pro197delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2183,
          "referenceAllele": "",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_017011951.2:c.1004dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867440.1:p.Pro336ThrfsTer12",
        "hgvsWellDefined": "XP_016867440.1:p.[Pro336_Leu337delinsThr;Thr339_Pro346del;Ala348_Pro352delinsTyrThr;Pro354_Arg360delinsThrThrGly;Pro362_Pro364delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2183,
          "referenceAllele": "",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NM_001127231.3:c.1004dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120703.1:p.Pro336ThrfsTer12",
        "hgvsWellDefined": "NP_001120703.1:p.[Pro336_Leu337delinsThr;Thr339_Pro346del;Ala348_Pro352delinsTyrThr;Pro354_Arg360delinsThrThrGly;Pro362_Pro364delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2183,
          "referenceAllele": "",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NM_015570.4:c.1004dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_056385.1:p.Pro336ThrfsTer12",
        "hgvsWellDefined": "NP_056385.1:p.[Pro336_Leu337delinsThr;Thr339_Pro346del;Ala348_Pro352delinsTyrThr;Pro354_Arg360delinsThrThrGly;Pro362_Pro364delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697572",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342771.10:c.1004dup"
          },
          "RefSeq": {
            "hgvs": "NM_015570.4:c.1004dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344087.4:p.Pro336ThrfsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_056385.1:p.Pro336ThrfsTer12"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}