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        "hgvsWellDefined": "NP_005893.1:p.[Phe248_Leu273delinsProArgLeuAlaAlaIleHisAspCysGlyTrpLeuHisArgProLeuGlnPheGlyAlaLeuLeuProArgAlaAla;Ser275_Val277delinsGlnCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.741_742del"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.741_742del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Phe248ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Phe248ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 779,
          "referenceAllele": "AT",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145102.2:c.426_427del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138574.1:p.Phe143ProfsTer?",
        "hgvsWellDefined": "NP_001138574.1:p.[Phe143_Leu168delinsProArgLeuAlaAlaIleHisAspCysGlyTrpLeuHisArgProLeuGlnPheGlyAlaLeuLeuProArgAlaAla;Ser170_Val172delinsGlnCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712751"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 616,
          "referenceAllele": "AT",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145103.2:c.609_610del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138575.1:p.Phe204ProfsTer?",
        "hgvsWellDefined": "NP_001138575.1:p.[Phe204_Leu229delinsProArgLeuAlaAlaIleHisAspCysGlyTrpLeuHisArgProLeuGlnPheGlyAlaLeuLeuProArgAlaAla;Ser231_Val233delinsGlnCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712752"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 243,
          "referenceAllele": "AT",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145104.2:c.156_157del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138576.1:p.Phe53ProfsTer?",
        "hgvsWellDefined": "NP_001138576.1:p.[Phe53_Leu78delinsProArgLeuAlaAlaIleHisAspCysGlyTrpLeuHisArgProLeuGlnPheGlyAlaLeuLeuProArgAlaAla;Ser80_Val82delinsGlnCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712753"
    }
  ],
  "type": "nucleotide"
}