{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA200789",
  "communityStandardTitle": [
    "NM_000875.5(IGF1R):c.2298C>T (p.Thr766=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4770095"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190981[alleleid]",
        "alleleId": 190981,
        "preferredName": "NM_000875.5(IGF1R):c.2298C>T (p.Thr766=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193818",
        "RCV": [
          "RCV000174019",
          "RCV000266494",
          "RCV001723746"
        ],
        "variationId": 193818
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-99465473-C-T",
        "id": "15-99465473-C-T",
        "variant": "15:99465473 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.99465473C>T?assembly=hg19",
        "id": "chr15:g.99465473C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.98922244C>T?assembly=hg38",
        "id": "chr15:g.98922244C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3743262",
        "rs": 3743262
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-99465473-C-T?dataset=gnomad_r2_1",
        "id": "15-99465473-C-T",
        "variant": "15:99465473 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-98922244-C-T?dataset=gnomad_r3",
        "id": "15-98922244-C-T",
        "variant": "15:98922244 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-98922244-C-T?dataset=gnomad_r4",
        "id": "15-98922244-C-T",
        "variant": "15:98922244 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 98922244,
          "referenceAllele": "C",
          "start": 98922243
        }
      ],
      "hgvs": [
        "NC_000015.10:g.98922244C>T",
        "CM000677.2:g.98922244C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 99465473,
          "referenceAllele": "C",
          "start": 99465472
        }
      ],
      "hgvs": [
        "NC_000015.9:g.99465473C>T",
        "CM000677.1:g.99465473C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 97282996,
          "referenceAllele": "C",
          "start": 97282995
        }
      ],
      "hgvs": [
        "NC_000015.8:g.97282996C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277713,
          "referenceAllele": "C",
          "start": 277712
        }
      ],
      "hgvs": [
        "NG_009492.1:g.277713C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001601"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3341,
          "referenceAllele": "C",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000649865.1:c.2298C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496919.1:p.Thr766="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3341,
          "referenceAllele": "C",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000650285.1:c.2298C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497069.1:p.Thr766="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650285.1:c.2298C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000875.5:c.2298C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497069.1:p.Thr766="
          },
          "RefSeq": {
            "hgvs": "NP_000866.1:p.Thr766="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2909,
          "referenceAllele": "C",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000268035.10:c.2298C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268035.6:p.Thr766="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2836,
          "referenceAllele": "C",
          "start": 2835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000558762.5:c.2298C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453007.1:p.Thr766="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "C",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000561049.1:n.489C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825210021",
      "coordinates": [
        {
          "allele": "T",
          "end": 3341,
          "referenceAllele": "C",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_000875.4:c.2298C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000866.1:p.Thr766="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826810368",
      "coordinates": [
        {
          "allele": "T",
          "end": 3341,
          "referenceAllele": "C",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_001291858.1:c.2298C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278787.1:p.Thr766="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2429,
          "referenceAllele": "C",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521513.1:c.2361C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519815.1:p.Thr787="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2429,
          "referenceAllele": "C",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521514.1:c.2361C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519816.1:p.Thr787="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2429,
          "referenceAllele": "C",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521515.1:c.2361C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519817.1:p.Thr787="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1791,
          "referenceAllele": "C",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521516.1:c.1389C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519818.1:p.Thr463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521517.1:c.963C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519819.1:p.Thr321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1791,
          "referenceAllele": "C",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521516.2:c.1389C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519818.1:p.Thr463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521517.2:c.963C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519819.1:p.Thr321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2844,
          "referenceAllele": "C",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022136.1:c.2373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877625.1:p.Thr791="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2844,
          "referenceAllele": "C",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022137.1:c.2373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877626.1:p.Thr791="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2844,
          "referenceAllele": "C",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022138.1:c.2373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877627.1:p.Thr791="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2282,
          "referenceAllele": "C",
          "start": 2281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022139.1:c.1935C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877628.1:p.Thr645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1822,
          "referenceAllele": "C",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_024449913.1:c.1389C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305681.1:p.Thr463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825210021",
      "coordinates": [
        {
          "allele": "T",
          "end": 3341,
          "referenceAllele": "C",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_000875.5:c.2298C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000866.1:p.Thr766="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662620",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650285.1:c.2298C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000875.5:c.2298C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497069.1:p.Thr766="
          },
          "RefSeq": {
            "hgvs": "NP_000866.1:p.Thr766="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826810368",
      "coordinates": [
        {
          "allele": "T",
          "end": 3341,
          "referenceAllele": "C",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_001291858.2:c.2298C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278787.1:p.Thr766="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682882"
    }
  ],
  "type": "nucleotide"
}