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      "coordinates": [
        {
          "allele": "",
          "end": 172,
          "referenceAllele": "CAGAGGCGGCA",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.4:c.139_149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Gln47GlyfsTer?",
        "hgvsWellDefined": "NP_898871.1:p.[Gln47_His53delinsGlyGlySer;Thr55Tyr;Gln57del;Asp59_Met71delinsAlaArgSerGlyAlaProGlyValArgAlaAsnSerGlu;Leu73_Ser76delinsGluSerPhePro;Thr78_Ser79delinsCysAsnLysCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320393.9:c.139_149del"
          },
          "RefSeq": {
            "hgvs": "NM_183050.4:c.139_149del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318351.5:p.Gln47GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_898871.1:p.Gln47GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 172,
          "referenceAllele": "CAGAGGCGGCA",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.2:n.162_172del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703545"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 172,
          "referenceAllele": "CAGAGGCGGCA",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.5:c.139_149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Gln47GlyfsTer?",
        "hgvsWellDefined": "NP_000047.1:p.[Gln47_His53delinsGlyGlySer;Thr55Tyr;Gln57del;Asp59_Met71delinsAlaArgSerGlyAlaProGlyValArgAlaAsnSerGlu;Leu73_Ser76delinsGluSerPhePro;Thr78_Ser79delinsCysAsnLysCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710793"
    }
  ],
  "type": "nucleotide"
}