{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2199285311",
  "communityStandardTitle": [
    "NM_000875.5(IGF1R):c.1532G= (p.Arg511=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/33958176",
        "rs": 33958176
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 98911384,
          "referenceAllele": "G",
          "start": 98911383
        }
      ],
      "hgvs": [
        "NC_000015.10:g.98911384G=",
        "CM000677.2:g.98911384G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 99454613,
          "referenceAllele": "G",
          "start": 99454612
        }
      ],
      "hgvs": [
        "NC_000015.9:g.99454613G=",
        "CM000677.1:g.99454613G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 97272136,
          "referenceAllele": "G",
          "start": 97272135
        }
      ],
      "hgvs": [
        "NC_000015.8:g.97272136G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 266853,
          "referenceAllele": "G",
          "start": 266852
        }
      ],
      "hgvs": [
        "NG_009492.1:g.266853G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001601"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2575,
          "referenceAllele": "G",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000649865.1:c.1532G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496919.1:p.Arg511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2575,
          "referenceAllele": "G",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000650285.1:c.1532G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497069.1:p.Arg511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650285.1:c.1532G="
          },
          "RefSeq": {
            "hgvs": "NM_000875.5:c.1532G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497069.1:p.Arg511="
          },
          "RefSeq": {
            "hgvs": "NP_000866.1:p.Arg511="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2143,
          "referenceAllele": "G",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000268035.10:c.1532G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268035.6:p.Arg511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2070,
          "referenceAllele": "G",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000558762.5:c.1532G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453007.1:p.Arg511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "G",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000558898.1:c.623G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454115.1:p.Arg208="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000559582.1:n.439G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374697"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000559925.5:n.1532G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825209838",
      "coordinates": [
        {
          "allele": "G",
          "end": 2575,
          "referenceAllele": "G",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_000875.4:c.1532G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000866.1:p.Arg511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826810330",
      "coordinates": [
        {
          "allele": "G",
          "end": 2575,
          "referenceAllele": "G",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_001291858.1:c.1532G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278787.1:p.Arg511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
          "referenceAllele": "G",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521513.1:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519815.1:p.Arg532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
          "referenceAllele": "G",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521514.1:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519816.1:p.Arg532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
          "referenceAllele": "G",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521515.1:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519817.1:p.Arg532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "G",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521516.1:c.623G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519818.1:p.Arg208="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521517.1:c.197G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519819.1:p.Arg66="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "G",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521516.2:c.623G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519818.1:p.Arg208="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521517.2:c.197G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519819.1:p.Arg66="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2078,
          "referenceAllele": "G",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022136.1:c.1607G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877625.1:p.Arg536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2078,
          "referenceAllele": "G",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022137.1:c.1607G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877626.1:p.Arg536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2078,
          "referenceAllele": "G",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022138.1:c.1607G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877627.1:p.Arg536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1516,
          "referenceAllele": "G",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022139.1:c.1169G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877628.1:p.Arg390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_024449913.1:c.623G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305681.1:p.Arg208="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825209838",
      "coordinates": [
        {
          "allele": "G",
          "end": 2575,
          "referenceAllele": "G",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_000875.5:c.1532G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000866.1:p.Arg511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662620",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650285.1:c.1532G="
          },
          "RefSeq": {
            "hgvs": "NM_000875.5:c.1532G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497069.1:p.Arg511="
          },
          "RefSeq": {
            "hgvs": "NP_000866.1:p.Arg511="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826810330",
      "coordinates": [
        {
          "allele": "G",
          "end": 2575,
          "referenceAllele": "G",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_001291858.2:c.1532G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278787.1:p.Arg511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682882"
    }
  ],
  "type": "nucleotide"
}