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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2821,
          "referenceAllele": "AATTTGGTGCT",
          "start": 2810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.2346_2356del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Ile783SerfsTer28",
        "hgvsWellDefined": "XP_011514055.1:p.[Ile783_Leu797delinsSerAsnPheSerGlyArgGlyGlyCysPhePheGlyCysAla;Val799_Leu800delinsAlaPro;Leu802_Leu808delinsLysHisSerSerSerArg;Asp810_Thr815delinsArgGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3739,
          "referenceAllele": "AATTTGGTGCT",
          "start": 3728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.2346_2356del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Ile783SerfsTer28",
        "hgvsWellDefined": "XP_011514056.1:p.[Ile783_Leu797delinsSerAsnPheSerGlyArgGlyGlyCysPhePheGlyCysAla;Val799_Leu800delinsAlaPro;Leu802_Leu808delinsLysHisSerSerSerArg;Asp810_Thr815delinsArgGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2669,
          "referenceAllele": "AATTTGGTGCT",
          "start": 2658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.2589_2599del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Ile864SerfsTer28",
        "hgvsWellDefined": "NP_000483.3:p.[Ile864_Leu878delinsSerAsnPheSerGlyArgGlyGlyCysPhePheGlyCysAla;Val880_Leu881delinsAlaPro;Leu883_Leu889delinsLysHisSerSerSerArg;Asp891_Thr896delinsArgGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.2589_2599del"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.2589_2599del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Ile864SerfsTer28"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Ile864SerfsTer28"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}