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        "hgvsWellDefined": "NP_001121699.1:p.[Met625_Ala631delinsArgProCysArgGlyArgGln;Lys633_Glu643delinsSerSerMetMetArgThrCysSerTrpTrpLys;Met645_Pro648delinsCysGlnCysGln;Asp650_Gly654delinsMetArgLeuTrpVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.1874del"
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.1874del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Met625ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Met625ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1729,
          "referenceAllele": "T",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.3:c.1559del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Met520ArgfsTer?",
        "hgvsWellDefined": "NP_001177312.1:p.[Met520_Ala526delinsArgProCysArgGlyArgGln;Lys528_Glu538delinsSerSerMetMetArgThrCysSerTrpTrpLys;Met540_Pro543delinsCysGlnCysGln;Asp545_Gly549delinsMetArgLeuTrpVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679106"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1592,
          "referenceAllele": "T",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.3:c.1451del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Met484ArgfsTer?",
        "hgvsWellDefined": "NP_001177313.1:p.[Met484_Ala490delinsArgProCysArgGlyArgGln;Lys492_Glu502delinsSerSerMetMetArgThrCysSerTrpTrpLys;Met504_Pro507delinsCysGlnCysGln;Asp509_Gly513delinsMetArgLeuTrpVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679107"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1702,
          "referenceAllele": "T",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.2:c.1604del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.2:p.Met535ArgfsTer?",
        "hgvsWellDefined": "NP_001177317.2:p.[Met535_Ala541delinsArgProCysArgGlyArgGln;Lys543_Glu553delinsSerSerMetMetArgThrCysSerTrpTrpLys;Met555_Pro558delinsCysGlnCysGln;Asp560_Gly564delinsMetArgLeuTrpVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679108"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1798,
          "referenceAllele": "T",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374797.1:c.1628del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361726.1:p.Met543ArgfsTer?",
        "hgvsWellDefined": "NP_001361726.1:p.[Met543_Ala549delinsArgProCysArgGlyArgGln;Lys551_Glu561delinsSerSerMetMetArgThrCysSerTrpTrpLys;Met563_Pro566delinsCysGlnCysGln;Asp568_Gly572delinsMetArgLeuTrpVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693367"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1745,
          "referenceAllele": "T",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374798.1:c.1604del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361727.1:p.Met535ArgfsTer?",
        "hgvsWellDefined": "NP_001361727.1:p.[Met535_Ala541delinsArgProCysArgGlyArgGln;Lys543_Glu553delinsSerSerMetMetArgThrCysSerTrpTrpLys;Met555_Pro558delinsCysGlnCysGln;Asp560_Gly564delinsMetArgLeuTrpVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1951,
          "referenceAllele": "T",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.1781del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Met594ArgfsTer?",
        "hgvsWellDefined": "NP_005467.1:p.[Met594_Ala600delinsArgProCysArgGlyArgGln;Lys602_Glu612delinsSerSerMetMetArgThrCysSerTrpTrpLys;Met614_Pro617delinsCysGlnCysGln;Asp619_Gly623delinsMetArgLeuTrpVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.1781del"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.1781del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Met594ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Met594ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}