{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580095838",
  "communityStandardTitle": [
    "NM_005359.6(SMAD4):c.1309-5A>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1836019[alleleid]",
        "alleleId": 1836019,
        "preferredName": "NM_005359.6(SMAD4):c.1309-5A>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1769584",
        "RCV": [
          "RCV002381022",
          "RCV003763147"
        ],
        "variationId": 1769584
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1568211170",
        "rs": 1568211170
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 51076633,
          "referenceAllele": "A",
          "start": 51076632
        }
      ],
      "hgvs": [
        "NC_000018.10:g.51076633A>T",
        "CM000680.2:g.51076633A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 48603003,
          "referenceAllele": "A",
          "start": 48603002
        }
      ],
      "hgvs": [
        "NC_000018.9:g.48603003A>T",
        "CM000680.1:g.48603003A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 46857001,
          "referenceAllele": "A",
          "start": 46857000
        }
      ],
      "hgvs": [
        "NC_000018.8:g.46857001A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113594,
          "referenceAllele": "A",
          "start": 113593
        }
      ],
      "hgvs": [
        "NG_013013.2:g.113594A>T",
        "LRG_318:g.113594A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002660"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1573,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1573,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588860.6:c.1309-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465878.2:n.1309-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1612,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589076.6:c.1309-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466934.2:n.1309-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2015,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 2015,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589941.2:c.1309-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465874.2:n.1309-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1431,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1431,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000590061.2:c.1309-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464772.2:n.1309-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1840,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1840,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000593223.2:c.1309-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466118.2:n.1309-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1435,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000611848.2:c.1309-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478613.2:n.1309-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2680,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 2680,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000684953.1:n.2681-5A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1759,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1759,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000685090.1:n.1760-5A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1416,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1416,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000685232.1:n.1417-5A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1416,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1416,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000688574.1:n.1417-5A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2790,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 2790,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000691124.1:n.2791-5A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1846,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1846,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.8:c.1309-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:n.1309-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.1309-5A>T"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.1309-5A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:n.1309-5A>T"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:n.1309-5A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1846,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1846,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.7:c.1309-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:n.1309-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1566,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1566,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000398417.6:c.1309-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381452.1:n.1309-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1020,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588745.5:c.1021-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464901.1:n.1021-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 366,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000590499.1:n.367-5A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3309,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 3309,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000591126.5:n.3310-5A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 955,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 955,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000592186.5:c.956-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468611.1:n.956-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 75,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 75,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000593223.1:c.76-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466118.1:n.76-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 508,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000611848.1:c.509-5A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1846,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1846,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.5:c.1309-5A>T",
        "LRG_318t1:c.1309-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:n.1309-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1846,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1846,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.6:c.1309-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:n.1309-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696402",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.1309-5A>T"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.1309-5A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:n.1309-5A>T"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:n.1309-5A>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}