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      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_024818.6:c.971_972insC"
      ],
      "proteinEffect": {
        "hgvs": "NP_079094.1:p.Lys324AsnfsTer14",
        "hgvsWellDefined": "NP_079094.1:p.[Lys324_Glu337delinsAsnThrArgGlyTyrThrArgArgGlyArg;Glu340_Glu353delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356232.10:c.971_972insC"
          },
          "RefSeq": {
            "hgvs": "NM_024818.6:c.971_972insC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348565.4:p.Lys324AsnfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_079094.1:p.Lys324AsnfsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "referenceAllele": "",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_198329.4:c.803_804insC"
      ],
      "proteinEffect": {
        "hgvs": "NP_938143.1:p.Lys268AsnfsTer14",
        "hgvsWellDefined": "NP_938143.1:p.[Lys268_Glu281delinsAsnThrArgGlyTyrThrArgArgGlyArg;Glu284_Glu297delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729899"
    }
  ],
  "type": "nucleotide"
}