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      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_011519949.2:c.2083dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518251.1:p.Ser695LysfsTer20",
        "hgvsWellDefined": "XP_011518251.1:p.[Ser695_Ile702delinsLysHisArgCys;Tyr704_Met706del;Val708_Leu709delinsArgHis;Val711_Thr713delinsLeuTrp;Ala715_Ala719delinsGlyCysPro;Thr721_Ile724delinsCysCysAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2581,
          "referenceAllele": "",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_001142649.2:c.2173dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136121.1:p.Ser725LysfsTer20",
        "hgvsWellDefined": "NP_001136121.1:p.[Ser725_Ile732delinsLysHisArgCys;Tyr734_Met736del;Val738_Leu739delinsArgHis;Val741_Thr743delinsLeuTrp;Ala745_Ala749delinsGlyCysPro;Thr751_Ile754delinsCysCysAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2584,
          "referenceAllele": "",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_213599.3:c.2176dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_998764.1:p.Ser726LysfsTer20",
        "hgvsWellDefined": "NP_998764.1:p.[Ser726_Ile733delinsLysHisArgCys;Tyr735_Met737del;Val739_Leu740delinsArgHis;Val742_Thr744delinsLeuTrp;Ala746_Ala750delinsGlyCysPro;Thr752_Ile755delinsCysCysAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701806",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324559.9:c.2176dup"
          },
          "RefSeq": {
            "hgvs": "NM_213599.3:c.2176dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315371.9:p.Ser726LysfsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_998764.1:p.Ser726LysfsTer20"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}