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        "hgvs": "XP_024304750.1:p.Ala141GlyfsTer?",
        "hgvsWellDefined": "XP_024304750.1:p.[Ala141Gly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Asp170delinsAlaGluGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582547"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.4:c.421dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Ala141GlyfsTer?",
        "hgvsWellDefined": "NP_000422.1:p.[Ala141Gly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Asp170delinsAlaGluGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.421dup"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.421dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Ala141GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Ala141GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.3:c.421dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Ala141GlyfsTer?",
        "hgvsWellDefined": "NP_001107657.1:p.[Ala141Gly;Ser145_Ser150delinsLeuGlnArgArgLeuLeuGly;Cys152_Thr159delinsSerGlySerSerProProAspCys;Cys161_Ile164delinsArgGlyAsp;Asn166Lys;Leu168_Asp170delinsAlaGluGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 465,
          "endIntronDirection": "+",
          "endIntronOffset": 1498,
          "referenceAllele": "",
          "start": 465,
          "startIntronDirection": "+",
          "startIntronOffset": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.2:c.371+1498dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:n.371+1498dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683373"
    }
  ],
  "type": "nucleotide"
}