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        "NM_001128227.3:c.1779del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:p.Cys594ValfsTer?",
        "hgvsWellDefined": "NP_001121699.1:p.[Cys594_His600delinsValLeuGlnAsnTrpAlaThr;Val602_Asp606delinsLeuCysLeuTrpMet;Pro608_His615delinsLeuIleValProValGluAlaMet;Cys617_Ser623delinsAlaLeuLysHisThrPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.1779del"
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.1779del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Cys594ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Cys594ValfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1634,
          "referenceAllele": "C",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.3:c.1464del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Cys489ValfsTer?",
        "hgvsWellDefined": "NP_001177312.1:p.[Cys489_His495delinsValLeuGlnAsnTrpAlaThr;Val497_Asp501delinsLeuCysLeuTrpMet;Pro503_His510delinsLeuIleValProValGluAlaMet;Cys512_Ser518delinsAlaLeuLysHisThrPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679106"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1497,
          "referenceAllele": "C",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.3:c.1356del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Cys453ValfsTer?",
        "hgvsWellDefined": "NP_001177313.1:p.[Cys453_His459delinsValLeuGlnAsnTrpAlaThr;Val461_Asp465delinsLeuCysLeuTrpMet;Pro467_His474delinsLeuIleValProValGluAlaMet;Cys476_Ser482delinsAlaLeuLysHisThrPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679107"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.2:c.1509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.2:p.Cys504ValfsTer?",
        "hgvsWellDefined": "NP_001177317.2:p.[Cys504_His510delinsValLeuGlnAsnTrpAlaThr;Val512_Asp516delinsLeuCysLeuTrpMet;Pro518_His525delinsLeuIleValProValGluAlaMet;Cys527_Ser533delinsAlaLeuLysHisThrPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679108"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1703,
          "referenceAllele": "C",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374797.1:c.1533del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361726.1:p.Cys512ValfsTer?",
        "hgvsWellDefined": "NP_001361726.1:p.[Cys512_His518delinsValLeuGlnAsnTrpAlaThr;Val520_Asp524delinsLeuCysLeuTrpMet;Pro526_His533delinsLeuIleValProValGluAlaMet;Cys535_Ser541delinsAlaLeuLysHisThrPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693367"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374798.1:c.1509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361727.1:p.Cys504ValfsTer?",
        "hgvsWellDefined": "NP_001361727.1:p.[Cys504_His510delinsValLeuGlnAsnTrpAlaThr;Val512_Asp516delinsLeuCysLeuTrpMet;Pro518_His525delinsLeuIleValProValGluAlaMet;Cys527_Ser533delinsAlaLeuLysHisThrPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1856,
          "referenceAllele": "C",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.1686del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Cys563ValfsTer?",
        "hgvsWellDefined": "NP_005467.1:p.[Cys563_His569delinsValLeuGlnAsnTrpAlaThr;Val571_Asp575delinsLeuCysLeuTrpMet;Pro577_His584delinsLeuIleValProValGluAlaMet;Cys586_Ser592delinsAlaLeuLysHisThrPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.1686del"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.1686del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Cys563ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Cys563ValfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}