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        "hgvsWellDefined": "XP_016861741.1:p.Gln276_Ile428delinsGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaGluAlaGlnArgLeuSerLeuProProCysGlyAlaAsnGlyLeuGlyLysAsnThrSerPheArgMetGluAspPheAsnLeuSerPheLeuPheGlnLeuCysAspPheArgGlnAspIlePheAlaPheTrpThrLeuSerPhePheIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006253.1:c.751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861742.1:p.Gln251Ter",
        "hgvsWellDefined": "XP_016861742.1:p.Gln251_Ile423delinsGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaGluAlaGlnArgLeuSerLeuProProCysGlyAlaAsnGlyLeuGlyLysAsnThrSerPheArgMetGluAspPheAsnLeuSerPheLeuPheGlnLeuCysAspPheArgGlnAspIlePheAlaPheTrpThrLeuSerPhePheIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "C",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006254.2:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861743.1:p.Gln276Ter",
        "hgvsWellDefined": "XP_016861743.1:p.Gln276_Leu402delinsGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaPheIleAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "C",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006255.2:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861744.1:p.Gln276Ter",
        "hgvsWellDefined": "XP_016861744.1:p.Gln276_Gln351delinsGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgGluAlaValSerTrpAlaValPheTyrSerGlyProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573312336",
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "C",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_182760.4:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_877437.2:p.Gln276Ter",
        "hgvsWellDefined": "NP_877437.2:p.Gln276_Asp374delinsGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272902.10:c.826C>T"
          },
          "RefSeq": {
            "hgvs": "NM_182760.4:c.826C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272902.5:p.Gln276Ter"
          },
          "RefSeq": {
            "hgvs": "NP_877437.2:p.Gln276Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825999811",
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164674.2:c.751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158146.1:p.Gln251Ter",
        "hgvsWellDefined": "NP_001158146.1:p.Gln251_Asp349delinsGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000221",
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "C",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164675.2:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158147.1:p.Gln276Ter",
        "hgvsWellDefined": "NP_001158147.1:p.Gln276_Asp354delinsGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713114"
    }
  ],
  "type": "nucleotide"
}