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        "hgvsWellDefined": "ENSP00000003084.6:p.Leu1254_Leu1480delinsSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3671,
          "referenceAllele": "T",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000426809.5:c.3671T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389119.1:p.Leu1224Ter",
        "hgvsWellDefined": "ENSP00000389119.1:p.Leu1224Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA327281",
      "coordinates": [
        {
          "allele": "G",
          "end": 3893,
          "referenceAllele": "T",
          "start": 3892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.3:c.3761T>G",
        "LRG_663t1:c.3761T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Leu1254Ter",
        "hgvsWellDefined": "NP_000483.3:p.Leu1254_Leu1480delinsSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3879,
          "referenceAllele": "T",
          "start": 3878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515751.1:c.3851T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514053.1:p.Leu1284Ter",
        "hgvsWellDefined": "XP_011514053.1:p.Leu1284_Leu1510delinsSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3893,
          "referenceAllele": "T",
          "start": 3892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515752.1:c.3851T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514054.1:p.Leu1284Ter",
        "hgvsWellDefined": "XP_011514054.1:p.Leu1284_Tyr1449delinsSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuGlnLeuGlnPheTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3983,
          "referenceAllele": "T",
          "start": 3982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.3518T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Leu1173Ter",
        "hgvsWellDefined": "XP_011514055.1:p.Leu1173_Leu1399delinsSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4901,
          "referenceAllele": "T",
          "start": 4900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.3518T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Leu1173Ter",
        "hgvsWellDefined": "XP_011514056.1:p.Leu1173_Leu1399delinsSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "@id": "http://reg.genome.network/allele/PA327281",
      "coordinates": [
        {
          "allele": "G",
          "end": 3831,
          "referenceAllele": "T",
          "start": 3830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.3761T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Leu1254Ter",
        "hgvsWellDefined": "NP_000483.3:p.Leu1254_Leu1480delinsSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.3761T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.3761T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Leu1254Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Leu1254Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}