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        "hgvsWellDefined": "NP_001244918.1:p.[Asp448_Gly449del;Leu452_Gly454delinsGluProArg;Gln456_Arg458delinsAlaGlyGly;Leu460_Asp468delinsArgThrLeuArgProArgAlaIleArg;Ala470del;Phe472Leu;Ala474_Phe478delinsLeuArgArg;Glu480_Leu483delinsArgSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019660"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1538,
          "referenceAllele": "GGCCCCGCGCTCAGCGGGAC",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.4:c.1327_1346del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Asp443ProfsTer?",
        "hgvsWellDefined": "NP_001944.1:p.[Asp443_Gly444del;Leu447_Gly449delinsGluProArg;Gln451_Arg453delinsAlaGlyGly;Leu455_Asp463delinsArgThrLeuArgProArgAlaIleArg;Ala465del;Phe467Leu;Ala469_Phe473delinsLeuArgArg;Glu475_Leu478delinsArgSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027279"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1477,
          "referenceAllele": "GGCCCCGCGCTCAGCGGGAC",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.3:c.1327_1346del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Asp443ProfsTer?",
        "hgvsWellDefined": "NP_001107227.1:p.[Asp443_Gly444del;Leu447_Gly449delinsGluProArg;Gln451_Arg453delinsAlaGlyGly;Leu455_Asp463delinsArgThrLeuArgProArgAlaIleArg;Ala465del;Phe467Leu;Ala469_Phe473delinsLeuArgArg;Glu475_Leu478delinsArgSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676724"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1649,
          "referenceAllele": "GGCCCCGCGCTCAGCGGGAC",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.3:c.1327_1346del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Asp443ProfsTer?",
        "hgvsWellDefined": "NP_001107228.1:p.[Asp443_Gly444del;Leu447_Gly449delinsGluProArg;Gln451_Arg453delinsAlaGlyGly;Leu455_Asp463delinsArgThrLeuArgProArgAlaIleArg;Ala465del;Phe467Leu;Ala469_Phe473delinsLeuArgArg;Glu475_Leu478delinsArgSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676725"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1465,
          "referenceAllele": "GGCCCCGCGCTCAGCGGGAC",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.5:c.1327_1346del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Asp443ProfsTer?",
        "hgvsWellDefined": "NP_001944.1:p.[Asp443_Gly444del;Leu447_Gly449delinsGluProArg;Gln451_Arg453delinsAlaGlyGly;Leu455_Asp463delinsArgThrLeuArgProArgAlaIleArg;Ala465del;Phe467Leu;Ala469_Phe473delinsLeuArgArg;Glu475_Leu478delinsArgSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.1327_1346del"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.1327_1346del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Asp443ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Asp443ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 373,
          "referenceAllele": "GGCCCCGCGCTCAGCGGGAC",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169109.2:c.-14+354_-14+373del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162580.1:n.-14+354_-14+373del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713304"
    }
  ],
  "type": "nucleotide"
}