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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011022",
      "geneNCBI_id": 7355,
      "geneSymbol": "SLC35A2",
      "hgvs": [
        "NM_005660.3:c.500_509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005651.1:p.Leu167ProfsTer?",
        "hgvsWellDefined": "NP_005651.1:p.[Leu167_Ala170delinsProProCysCys;Leu172_Leu173delinsSerSer;Leu175_Gln186delinsAlaSerProLeuSerArgHisSerLysProValGlyGlu;Gly188His;Gly190_Pro192delinsHisTrpIle;Pro194Thr;Asp196_Pro199del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667079",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000247138.11:c.500_509del"
          },
          "RefSeq": {
            "hgvs": "NM_005660.3:c.500_509del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000247138.5:p.Leu167ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005651.1:p.Leu167ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 507,
          "referenceAllele": "AGTGGGCTGC",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011022",
      "geneNCBI_id": 7355,
      "geneSymbol": "SLC35A2",
      "hgvs": [
        "NM_001032289.3:c.427-517_427-508del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027460.1:n.427-517_427-508del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675762"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 519,
          "referenceAllele": "AGTGGGCTGC",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011022",
      "geneNCBI_id": 7355,
      "geneSymbol": "SLC35A2",
      "hgvs": [
        "NM_001042498.3:c.500_509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035963.1:p.Leu167ProfsTer?",
        "hgvsWellDefined": "NP_001035963.1:p.[Leu167_Ala170delinsProProCysCys;Leu172_Leu173delinsSerSer;Leu175_Gln186delinsAlaSerProLeuSerArgHisSerLysProValGlyGlu;Gly188His;Gly190_Pro192delinsHisTrpIle;Pro194Thr;Asp196_Pro199del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676042"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 436,
          "endIntronDirection": "-",
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          "referenceAllele": "AGTGGGCTGC",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011022",
      "geneNCBI_id": 7355,
      "geneSymbol": "SLC35A2",
      "hgvs": [
        "NM_001282647.2:c.427-517_427-508del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269576.1:n.427-517_427-508del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681850"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "AGTGGGCTGC",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011022",
      "geneNCBI_id": 7355,
      "geneSymbol": "SLC35A2",
      "hgvs": [
        "NM_001282649.2:c.317_326del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269578.1:p.Leu106ProfsTer?",
        "hgvsWellDefined": "NP_001269578.1:p.[Leu106_Ala109delinsProProCysCys;Leu111_Leu112delinsSerSer;Leu114_Gln125delinsAlaSerProLeuSerArgHisSerLysProValGlyGlu;Gly127His;Gly129_Pro131delinsHisTrpIle;Pro133Thr;Asp135_Pro138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681851"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 558,
          "referenceAllele": "AGTGGGCTGC",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011022",
      "geneNCBI_id": 7355,
      "geneSymbol": "SLC35A2",
      "hgvs": [
        "NM_001282650.2:c.539_548del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269579.1:p.Leu180ProfsTer?",
        "hgvsWellDefined": "NP_001269579.1:p.[Leu180_Ala183delinsProProCysCys;Leu185_Leu186delinsSerSer;Leu188_Gln199delinsAlaSerProLeuSerArgHisSerLysProValGlyGlu;Gly201His;Gly203_Pro205delinsHisTrpIle;Pro207Thr;Asp209_Pro212del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681852"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 603,
          "referenceAllele": "AGTGGGCTGC",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011022",
      "geneNCBI_id": 7355,
      "geneSymbol": "SLC35A2",
      "hgvs": [
        "NM_001282651.2:c.584_593del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269580.1:p.Leu195ProfsTer?",
        "hgvsWellDefined": "NP_001269580.1:p.[Leu195_Ala198delinsProProCysCys;Leu200_Leu201delinsSerSer;Leu203_Gln214delinsAlaSerProLeuSerArgHisSerLysProValGlyGlu;Gly216His;Gly218_Pro220delinsHisTrpIle;Pro222Thr;Asp224_Pro227del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681853"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "endIntronDirection": "-",
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          "referenceAllele": "AGTGGGCTGC",
          "start": 435,
          "startIntronDirection": "-",
          "startIntronOffset": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011022",
      "geneNCBI_id": 7355,
      "geneSymbol": "SLC35A2",
      "hgvs": [
        "NM_001282648.2:c.355-517_355-508del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269577.1:n.355-517_355-508del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715887"
    }
  ],
  "type": "nucleotide"
}