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      "proteinEffect": {
        "hgvs": "XP_016861741.1:p.Glu264Ter",
        "hgvsWellDefined": "XP_016861741.1:p.Glu264_Ile428delinsPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaGluAlaGlnArgLeuSerLeuProProCysGlyAlaAsnGlyLeuGlyLysAsnThrSerPheArgMetGluAspPheAsnLeuSerPheLeuPheGlnLeuCysAspPheArgGlnAspIlePheAlaPheTrpThrLeuSerPhePheIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006253.1:c.715G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861742.1:p.Glu239Ter",
        "hgvsWellDefined": "XP_016861742.1:p.Glu239_Ile423delinsPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaGluAlaGlnArgLeuSerLeuProProCysGlyAlaAsnGlyLeuGlyLysAsnThrSerPheArgMetGluAspPheAsnLeuSerPheLeuPheGlnLeuCysAspPheArgGlnAspIlePheAlaPheTrpThrLeuSerPhePheIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006254.2:c.790G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861743.1:p.Glu264Ter",
        "hgvsWellDefined": "XP_016861743.1:p.Glu264_Leu402delinsPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaPheIleAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006255.2:c.790G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861744.1:p.Glu264Ter",
        "hgvsWellDefined": "XP_016861744.1:p.Glu264_Gln351delinsPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgGluAlaValSerTrpAlaValPheTyrSerGlyProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573312331",
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_182760.4:c.790G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_877437.2:p.Glu264Ter",
        "hgvsWellDefined": "NP_877437.2:p.Glu264_Asp374delinsPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272902.10:c.790G>T"
          },
          "RefSeq": {
            "hgvs": "NM_182760.4:c.790G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272902.5:p.Glu264Ter"
          },
          "RefSeq": {
            "hgvs": "NP_877437.2:p.Glu264Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825999795",
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "G",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164674.2:c.715G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158146.1:p.Glu239Ter",
        "hgvsWellDefined": "NP_001158146.1:p.Glu239_Asp349delinsPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000205",
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164675.2:c.790G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158147.1:p.Glu264Ter",
        "hgvsWellDefined": "NP_001158147.1:p.Glu264_Asp354delinsPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713114"
    }
  ],
  "type": "nucleotide"
}