{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392956433",
  "communityStandardTitle": [
    "NM_005902.4(SMAD3):c.871G>T (p.Gly291Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=510661[alleleid]",
        "alleleId": 510661,
        "preferredName": "NM_005902.4(SMAD3):c.871G>T (p.Gly291Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/520182",
        "RCV": [
          "RCV002315223"
        ],
        "variationId": 520182
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.67473791G>T?assembly=hg19",
        "id": "chr15:g.67473791G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.67181453G>T?assembly=hg38",
        "id": "chr15:g.67181453G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730880215",
        "rs": 730880215
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-67181453-G-T?dataset=gnomad_r4",
        "id": "15-67181453-G-T",
        "variant": "15:67181453 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 67181453,
          "referenceAllele": "G",
          "start": 67181452
        }
      ],
      "hgvs": [
        "NC_000015.10:g.67181453G>T",
        "CM000677.2:g.67181453G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 67473791,
          "referenceAllele": "G",
          "start": 67473790
        }
      ],
      "hgvs": [
        "NC_000015.9:g.67473791G>T",
        "CM000677.1:g.67473791G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 65260845,
          "referenceAllele": "G",
          "start": 65260844
        }
      ],
      "hgvs": [
        "NC_000015.8:g.65260845G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 120597,
          "referenceAllele": "G",
          "start": 120596
        }
      ],
      "hgvs": [
        "NG_011990.1:g.120597G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558428.6:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454165.2:p.Gly96Ter",
        "hgvsWellDefined": "ENSP00000454165.2:p.Gly96_Ser230delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558739.2:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453684.2:p.Gly186Ter",
        "hgvsWellDefined": "ENSP00000453684.2:p.Gly186_Ser320delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "G",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558827.2:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452767.2:p.Gly96Ter",
        "hgvsWellDefined": "ENSP00000452767.2:p.Gly96_Ser230delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559460.6:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453082.2:p.Gly186Ter",
        "hgvsWellDefined": "ENSP00000453082.2:p.Gly186_Ser320delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "G",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560424.2:c.871G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455540.2:p.Gly291Ter",
        "hgvsWellDefined": "ENSP00000455540.2:p.Gly291_Ser462delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyLysAlaProLeuSerThrProSerProTyrPheTrpLysProSerLeuGlnThrSerProCysSerGlySerArgSerLeuTrpAlaSerLeuProSerProLeuAlaGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1424,
          "referenceAllele": "G",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.9:c.871G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:p.Gly291Ter",
        "hgvsWellDefined": "ENSP00000332973.4:p.Gly291_Ser425delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.871G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.871G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Gly291Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Gly291Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000679624.1:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505445.1:p.Gly186Ter",
        "hgvsWellDefined": "ENSP00000505445.1:p.Gly186_Ser320delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "G",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000680689.1:n.574G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "referenceAllele": "G",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000681239.1:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505641.1:p.Gly186Ter",
        "hgvsWellDefined": "ENSP00000505641.1:p.Gly186_Ser320delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.8:c.871G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:p.Gly291Ter",
        "hgvsWellDefined": "ENSP00000332973.4:p.Gly291_Ser425delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000439724.7:c.739G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401133.3:p.Gly247Ter",
        "hgvsWellDefined": "ENSP00000401133.3:p.Gly247_Ser381delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000537194.6:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445348.2:p.Gly96Ter",
        "hgvsWellDefined": "ENSP00000445348.2:p.Gly96_Ser230delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000540846.6:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437757.2:p.Gly186Ter",
        "hgvsWellDefined": "ENSP00000437757.2:p.Gly186_Ser320delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "G",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558827.1:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452767.1:p.Gly96Ter",
        "hgvsWellDefined": "ENSP00000452767.1:p.Gly96_Leu113del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558894.5:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458060.1:p.Gly186Ter",
        "hgvsWellDefined": "ENSP00000458060.1:p.Gly186_Tyr213del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "endIntronDirection": "+",
          "endIntronOffset": 6869,
          "referenceAllele": "G",
          "start": 282,
          "startIntronDirection": "+",
          "startIntronOffset": 6868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560402.1:n.282+6869G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825880911",
      "coordinates": [
        {
          "allele": "T",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145102.1:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138574.1:p.Gly186Ter",
        "hgvsWellDefined": "NP_001138574.1:p.Gly186_Ser320delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825881374",
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145103.1:c.739G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138575.1:p.Gly247Ter",
        "hgvsWellDefined": "NP_001138575.1:p.Gly247_Ser381delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915982436",
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "G",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145104.1:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138576.1:p.Gly96Ter",
        "hgvsWellDefined": "NP_001138576.1:p.Gly96_Ser230delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013468"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812388",
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.3:c.871G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:p.Gly291Ter",
        "hgvsWellDefined": "NP_005893.1:p.Gly291_Ser425delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.1:c.739G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:p.Gly247Ter",
        "hgvsWellDefined": "XP_011519861.1:p.Gly247_Ser381delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521560.1:c.724G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519862.1:p.Gly242Ter",
        "hgvsWellDefined": "XP_011519862.1:p.Gly242_Ser376delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "G",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.3:c.739G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:p.Gly247Ter",
        "hgvsWellDefined": "XP_011519861.1:p.Gly247_Ser381delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812388",
      "coordinates": [
        {
          "allele": "T",
          "end": 1424,
          "referenceAllele": "G",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.4:c.871G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:p.Gly291Ter",
        "hgvsWellDefined": "NP_005893.1:p.Gly291_Ser425delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.871G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.871G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Gly291Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Gly291Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825880911",
      "coordinates": [
        {
          "allele": "T",
          "end": 908,
          "referenceAllele": "G",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145102.2:c.556G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138574.1:p.Gly186Ter",
        "hgvsWellDefined": "NP_001138574.1:p.Gly186_Ser320delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825881374",
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145103.2:c.739G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138575.1:p.Gly247Ter",
        "hgvsWellDefined": "NP_001138575.1:p.Gly247_Ser381delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915982436",
      "coordinates": [
        {
          "allele": "T",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145104.2:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138576.1:p.Gly96Ter",
        "hgvsWellDefined": "NP_001138576.1:p.Gly96_Ser230delinsArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712753"
    }
  ],
  "type": "nucleotide"
}