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      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.3:c.1087del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Ser363ProfsTer6",
        "hgvsWellDefined": "NP_001177313.1:p.[Ser363_Asn369del;Arg371_Ile374delinsGln;Leu376_Ser387delinsAla;Asp389_Thr392del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679107"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1338,
          "referenceAllele": "T",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.2:c.1240del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.2:p.Ser414ProfsTer6",
        "hgvsWellDefined": "NP_001177317.2:p.[Ser414_Asn420del;Arg422_Ile425delinsGln;Leu427_Ser438delinsAla;Asp440_Thr443del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679108"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1434,
          "referenceAllele": "T",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374797.1:c.1264del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361726.1:p.Ser422ProfsTer6",
        "hgvsWellDefined": "NP_001361726.1:p.[Ser422_Asn428del;Arg430_Ile433delinsGln;Leu435_Ser446delinsAla;Asp448_Thr451del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693367"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1381,
          "referenceAllele": "T",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374798.1:c.1240del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361727.1:p.Ser414ProfsTer6",
        "hgvsWellDefined": "NP_001361727.1:p.[Ser414_Asn420del;Arg422_Ile425delinsGln;Leu427_Ser438delinsAla;Asp440_Thr443del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1587,
          "referenceAllele": "T",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.1417del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Ser473ProfsTer6",
        "hgvsWellDefined": "NP_005467.1:p.[Ser473_Asn479del;Arg481_Ile484delinsGln;Leu486_Ser497delinsAla;Asp499_Thr502del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.1417del"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.1417del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Ser473ProfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Ser473ProfsTer6"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}