{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402460591",
  "communityStandardTitle": [
    "NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4728226",
        "active": true,
        "id": "COSM4728226"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=468010[alleleid]",
        "alleleId": 468010,
        "preferredName": "NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/460552",
        "RCV": [
          "RCV002231363",
          "RCV004023833",
          "RCV002319038"
        ],
        "variationId": 460552
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.48581157C>G?assembly=hg19",
        "id": "chr18:g.48581157C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.51054787C>G?assembly=hg38",
        "id": "chr18:g.51054787C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555685624",
        "rs": 1555685624
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 51054787,
          "referenceAllele": "C",
          "start": 51054786
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      ],
      "hgvs": [
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        "CM000680.2:g.51054787C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 48581157,
          "referenceAllele": "C",
          "start": 48581156
        }
      ],
      "hgvs": [
        "NC_000018.9:g.48581157C>G",
        "CM000680.1:g.48581157C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 46835155,
          "referenceAllele": "C",
          "start": 46835154
        }
      ],
      "hgvs": [
        "NC_000018.8:g.46835155C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 91748,
          "referenceAllele": "C",
          "start": 91747
        }
      ],
      "hgvs": [
        "NG_013013.2:g.91748C>G",
        "LRG_318:g.91748C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002660"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
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      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
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      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000466934.2:p.Ser155_Asp552delinsMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
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      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589941.2:c.461C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465874.2:p.Ser154Ter",
        "hgvsWellDefined": "ENSP00000465874.2:p.Ser155_Asp552delinsMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "C",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000590061.2:c.461C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464772.2:p.Ser154Ter",
        "hgvsWellDefined": "ENSP00000464772.2:p.Ser155_Asp552delinsMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000593223.2:c.461C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466118.2:p.Ser154Ter",
        "hgvsWellDefined": "ENSP00000466118.2:p.Ser155_Val493delinsMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLysTyrAlaPheHisSerPheLeuLysValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 588,
          "referenceAllele": "C",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000611848.2:c.461C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478613.2:p.Ser154Ter",
        "hgvsWellDefined": "ENSP00000478613.2:p.Ser155_Ser486delinsMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleLysLeuAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1833,
          "referenceAllele": "C",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000684953.1:n.1833C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829809"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.8:c.461C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:p.Ser154Ter",
        "hgvsWellDefined": "ENSP00000341551.3:p.Ser155_Asp552delinsMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.461C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.461C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Ser154Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Ser154Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.7:c.461C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:p.Ser154Ter",
        "hgvsWellDefined": "ENSP00000341551.3:p.Ser155_Asp552delinsMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000398417.6:c.461C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381452.1:p.Ser154Ter",
        "hgvsWellDefined": "ENSP00000381452.1:p.Ser155_Asp552delinsMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 330,
          "referenceAllele": "C",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000585448.1:n.330C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588745.5:c.461C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464901.1:p.Ser154Ter",
        "hgvsWellDefined": "ENSP00000464901.1:p.Ser155_Asp456delinsMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrThrProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1002,
          "referenceAllele": "C",
          "start": 1001
        }
      ],
      "hgvs": [
        "ENST00000590722.2:c.*637C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465737.1:n.*637C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2462,
          "referenceAllele": "C",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000591126.5:n.2462C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000592186.5:c.461C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468611.1:p.Ser154Ter",
        "hgvsWellDefined": "ENSP00000468611.1:p.Ser155_Leu320delinsMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 239,
          "referenceAllele": "C",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000592911.5:n.239C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658673923",
      "coordinates": [
        {
          "allele": "G",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.5:c.461C>G",
        "LRG_318t1:c.461C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Ser154Ter",
        "hgvsWellDefined": "NP_005350.1:p.Ser155_Asp552delinsMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658673923",
      "coordinates": [
        {
          "allele": "G",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.6:c.461C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Ser154Ter",
        "hgvsWellDefined": "NP_005350.1:p.Ser155_Asp552delinsMetMetValLysAspGluTyrValHisAspPheGluGlyGlnProSerLeuSerThrGluGlyHisSerIleGlnThrIleGlnHisProProSerAsnArgAlaSerThrGluThrTyrSerThrProAlaLeuLeuAlaProSerGluSerAsnAlaThrSerThrAlaAsnPheProAsnIleProValAlaSerThrSerGlnProAlaSerIleLeuGlyGlySerHisSerGluGlyLeuLeuGlnIleAlaSerGlyProGlnProGlyGlnGlnGlnAsnGlyPheThrGlyGlnProAlaThrTyrHisHisAsnSerThrThrThrTrpThrGlySerArgThrAlaProTyrThrProAsnLeuProHisHisGlnAsnGlyHisLeuGlnHisHisProProMetProProHisProGlyHisTyrTrpProValHisAsnGluLeuAlaPheGlnProProIleSerAsnHisProAlaProGluTyrTrpCysSerIleAlaTyrPheGluMetAspValGlnValGlyGluThrPheLysValProSerSerCysProIleValThrValAspGlyTyrValAspProSerGlyGlyAspArgPheCysLeuGlyGlnLeuSerAsnValHisArgThrGluAlaIleGluArgAlaArgLeuHisIleGlyLysGlyValGlnLeuGluCysLysGlyGluGlyAspValTrpValArgCysLeuSerAspHisAlaValPheValGlnSerTyrTyrLeuAspArgGluAlaGlyArgAlaProGlyAspAlaValHisLysIleTyrProSerAlaTyrIleLysValPheAspLeuArgGlnCysHisArgGlnMetGlnGlnGlnAlaAlaThrAlaGlnAlaAlaAlaAlaAlaGlnAlaAlaAlaValAlaGlyAsnIleProGlyProGlySerValGlyGlyIleAlaProAlaIleSerLeuSerAlaAlaAlaGlyIleGlyValAspAspLeuArgArgLeuCysIleLeuArgMetSerPheValLysGlyTrpGlyProAspTyrProArgGlnSerIleLysGluThrProCysTrpIleGluIleHisLeuHisArgAlaLeuGlnLeuLeuAspGluValLeuHisThrMetProIleAlaAspProGlnProLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696402",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.461C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.461C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Ser154Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Ser154Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}