{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16620063",
  "communityStandardTitle": [
    "NM_000875.5(IGF1R):c.323del (p.Gly108AlafsTer15)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409435[alleleid]",
        "alleleId": 409435,
        "preferredName": "NM_000875.5(IGF1R):c.323del (p.Gly108fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418254",
        "RCV": [
          "RCV000478317"
        ],
        "variationId": 418254
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.99251019del?assembly=hg19",
        "id": "chr15:g.99251019del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.98707790del?assembly=hg38",
        "id": "chr15:g.98707790del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793151",
        "rs": 1064793151
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 98707790,
          "referenceAllele": "G",
          "start": 98707789
        }
      ],
      "hgvs": [
        "NC_000015.10:g.98707790del",
        "CM000677.2:g.98707790del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 99251019,
          "referenceAllele": "G",
          "start": 99251018
        }
      ],
      "hgvs": [
        "NC_000015.9:g.99251019del",
        "CM000677.1:g.99251019del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 97068542,
          "referenceAllele": "G",
          "start": 97068541
        }
      ],
      "hgvs": [
        "NC_000015.8:g.97068542del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 63259,
          "referenceAllele": "G",
          "start": 63258
        }
      ],
      "hgvs": [
        "NG_009492.1:g.63259del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001601"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000649865.1:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496919.1:p.Gly108AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770808"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000650285.1:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497069.1:p.Gly108AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650285.1:c.323del"
          },
          "RefSeq": {
            "hgvs": "NM_000875.5:c.323del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497069.1:p.Gly108AlafsTer15"
          },
          "RefSeq": {
            "hgvs": "NP_000866.1:p.Gly108AlafsTer15"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000268035.10:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268035.6:p.Gly108AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000558762.5:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453007.1:p.Gly108AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374047"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 323,
          "referenceAllele": "G",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "ENST00000559925.5:n.323del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_000875.4:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000866.1:p.Gly108AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006903"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_001291858.1:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278787.1:p.Gly108AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "G",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521513.1:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519815.1:p.Gly108AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088673"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "G",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521514.1:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519816.1:p.Gly108AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088674"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "G",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_011521515.1:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519817.1:p.Gly108AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088675"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022136.1:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877625.1:p.Gly133AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573163"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022137.1:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877626.1:p.Gly133AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573164"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022138.1:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877627.1:p.Gly133AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573165"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 307,
          "referenceAllele": "G",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "XM_017022139.1:c.-41del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877628.1:n.-41del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573166"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_000875.5:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000866.1:p.Gly108AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662620",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650285.1:c.323del"
          },
          "RefSeq": {
            "hgvs": "NM_000875.5:c.323del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497069.1:p.Gly108AlafsTer15"
          },
          "RefSeq": {
            "hgvs": "NP_000866.1:p.Gly108AlafsTer15"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005465",
      "geneNCBI_id": 3480,
      "geneSymbol": "IGF1R",
      "hgvs": [
        "NM_001291858.2:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278787.1:p.Gly108AlafsTer15"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682882"
    }
  ],
  "type": "nucleotide"
}