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          "referenceAllele": "ACATTCTGTTCTTCAAGCACCTATGTCAACCC",
          "start": 2990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515752.1:c.2949_2980del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514054.1:p.Leu983PhefsTer11",
        "hgvsWellDefined": "XP_011514054.1:p.[Leu983_Ser985delinsPheGlnHis;Leu987_Met991delinsGlu;Thr993_Asn1004del;Phe1006_Lys1008delinsTrp;Ile1010_Asp1023delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3112,
          "referenceAllele": "ACATTCTGTTCTTCAAGCACCTATGTCAACCC",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.2616_2647del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Leu872PhefsTer11",
        "hgvsWellDefined": "XP_011514055.1:p.[Leu872_Ser874delinsPheGlnHis;Leu876_Met880delinsGlu;Thr882_Asn893del;Phe895_Lys897delinsTrp;Ile899_Asp912delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4030,
          "referenceAllele": "ACATTCTGTTCTTCAAGCACCTATGTCAACCC",
          "start": 3998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.2616_2647del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Leu872PhefsTer11",
        "hgvsWellDefined": "XP_011514056.1:p.[Leu872_Ser874delinsPheGlnHis;Leu876_Met880delinsGlu;Thr882_Asn893del;Phe895_Lys897delinsTrp;Ile899_Asp912delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2960,
          "referenceAllele": "ACATTCTGTTCTTCAAGCACCTATGTCAACCC",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.2859_2890del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Leu953PhefsTer11",
        "hgvsWellDefined": "NP_000483.3:p.[Leu953_Ser955delinsPheGlnHis;Leu957_Met961delinsGlu;Thr963_Asn974del;Phe976_Lys978delinsTrp;Ile980_Asp993delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.2859_2890del"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.2859_2890del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Leu953PhefsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Leu953PhefsTer11"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}