{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124311",
  "communityStandardTitle": [
    "NM_000875.5(IGF1R):c.265C>T (p.Arg89Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29831[alleleid]",
        "alleleId": 29831,
        "preferredName": "NM_000875.5(IGF1R):c.265C>T (p.Arg89Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14792",
        "RCV": [
          "RCV000015915"
        ],
        "variationId": 14792
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.99250961C>T?assembly=hg19",
        "id": "chr15:g.99250961C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.98707732C>T?assembly=hg38",
        "id": "chr15:g.98707732C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912428",
        "rs": 121912428
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-98707732-C-T?dataset=gnomad_r4",
        "id": "15-98707732-C-T",
        "variant": "15:98707732 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 98707732,
          "referenceAllele": "C",
          "start": 98707731
        }
      ],
      "hgvs": [
        "NC_000015.10:g.98707732C>T",
        "CM000677.2:g.98707732C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 99250961,
          "referenceAllele": "C",
          "start": 99250960
        }
      ],
      "hgvs": [
        "NC_000015.9:g.99250961C>T",
        "CM000677.1:g.99250961C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 97068484,
          "referenceAllele": "C",
          "start": 97068483
        }
      ],
      "hgvs": [
        "NC_000015.8:g.97068484C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63201,
          "referenceAllele": "C",
          "start": 63200
        }
      ],
      "hgvs": [
        "NG_009492.1:g.63201C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001601"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000649865.1:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496919.1:p.Arg89Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000650285.1:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497069.1:p.Arg89Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650285.1:c.265C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000875.5:c.265C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497069.1:p.Arg89Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000866.1:p.Arg89Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000268035.10:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268035.6:p.Arg89Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000558762.5:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453007.1:p.Arg89Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000559925.5:n.265C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_000875.4:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000866.1:p.Arg89Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_001291858.1:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278787.1:p.Arg89Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521513.1:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519815.1:p.Arg89Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521514.1:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519816.1:p.Arg89Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521515.1:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519817.1:p.Arg89Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022136.1:c.340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877625.1:p.Arg114Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022137.1:c.340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877626.1:p.Arg114Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022138.1:c.340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877627.1:p.Arg114Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022139.1:c.-99C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877628.1:n.-99C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_000875.5:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000866.1:p.Arg89Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662620",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650285.1:c.265C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000875.5:c.265C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497069.1:p.Arg89Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000866.1:p.Arg89Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_001291858.2:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278787.1:p.Arg89Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682882"
    }
  ],
  "type": "nucleotide"
}