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        "hgvs": "XP_011514055.1:p.Ile1214PhefsTer?",
        "hgvsWellDefined": "XP_011514055.1:p.[Ile1214del;Ser1216_Arg1220delinsLeuGluHisLeuGlu;Asn1222_Asp1224delinsThrTrpIle;Tyr1226_Trp1235delinsMetAsnSerGlyValIleLysLysTyrGly;Val1237_Val1241delinsLeuGlnMetArgLeu;Leu1243_Arg1244delinsSerAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5026,
          "referenceAllele": "ATTT",
          "start": 5022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.3640_3643del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Ile1214PhefsTer?",
        "hgvsWellDefined": "XP_011514056.1:p.[Ile1214del;Ser1216_Arg1220delinsLeuGluHisLeuGlu;Asn1222_Asp1224delinsThrTrpIle;Tyr1226_Trp1235delinsMetAsnSerGlyValIleLysLysTyrGly;Val1237_Val1241delinsLeuGlnMetArgLeu;Leu1243_Arg1244delinsSerAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3956,
          "referenceAllele": "ATTT",
          "start": 3952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.3883_3886del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Ile1295PhefsTer?",
        "hgvsWellDefined": "NP_000483.3:p.[Ile1295del;Ser1297_Arg1301delinsLeuGluHisLeuGlu;Asn1303_Asp1305delinsThrTrpIle;Tyr1307_Trp1316delinsMetAsnSerGlyValIleLysLysTyrGly;Val1318_Val1322delinsLeuGlnMetArgLeu;Leu1324_Arg1325delinsSerAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.3883_3886del"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.3883_3886del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Ile1295PhefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Ile1295PhefsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}