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      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_011519949.2:c.98dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518251.1:p.Asn33LysfsTer15",
        "hgvsWellDefined": "XP_011518251.1:p.[Asn33_Ser36del;Asp38del;Ile40_Phe42delinsAlaLysGln;Asp44_Asp50del;Val52Tyr;Ser54_Lys61delinsLeuProArgTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "referenceAllele": "",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_001142649.2:c.188dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136121.1:p.Asn63LysfsTer15",
        "hgvsWellDefined": "NP_001136121.1:p.[Asn63_Ser66del;Asp68del;Ile70_Phe72delinsAlaLysGln;Asp74_Asp80del;Val82Tyr;Ser84_Lys91delinsLeuProArgTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "referenceAllele": "",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_213599.3:c.191dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_998764.1:p.Asn64LysfsTer15",
        "hgvsWellDefined": "NP_998764.1:p.[Asn64_Ser67del;Asp69del;Ile71_Phe73delinsAlaLysGln;Asp75_Asp81del;Val83Tyr;Ser85_Lys92delinsLeuProArgTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701806",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324559.9:c.191dup"
          },
          "RefSeq": {
            "hgvs": "NM_213599.3:c.191dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315371.9:p.Asn64LysfsTer15"
          },
          "RefSeq": {
            "hgvs": "NP_998764.1:p.Asn64LysfsTer15"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}