{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1168573",
  "communityStandardTitle": [
    "NM_014215.3(INSRR):c.879C>T (p.Phe293=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=128244",
        "active": true,
        "id": "COSM128244"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=128245",
        "active": true,
        "id": "COSM128245"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1686965[alleleid]",
        "alleleId": 1686965,
        "preferredName": "NM_014215.3(INSRR):c.879C>T (p.Phe293=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1694532",
        "RCV": [
          "RCV002262252"
        ],
        "variationId": 1694532
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-156821742-G-A",
        "id": "1-156821742-G-A",
        "variant": "1:156821742 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156821742G>A?assembly=hg19",
        "id": "chr1:g.156821742G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156851950G>A?assembly=hg38",
        "id": "chr1:g.156851950G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/55881234",
        "rs": 55881234
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156821742-G-A?dataset=gnomad_r2_1",
        "id": "1-156821742-G-A",
        "variant": "1:156821742 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156851950-G-A?dataset=gnomad_r3",
        "id": "1-156851950-G-A",
        "variant": "1:156851950 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156851950-G-A?dataset=gnomad_r4",
        "id": "1-156851950-G-A",
        "variant": "1:156851950 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156851950,
          "referenceAllele": "G",
          "start": 156851949
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156851950G>A",
        "CM000663.2:g.156851950G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156821742,
          "referenceAllele": "G",
          "start": 156821741
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156821742G>A",
        "CM000663.1:g.156821742G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 155088366,
          "referenceAllele": "G",
          "start": 155088365
        }
      ],
      "hgvs": [
        "NC_000001.9:g.155088366G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41201,
          "referenceAllele": "G",
          "start": 41200
        }
      ],
      "hgvs": [
        "NG_007493.1:g.41201G>A",
        "LRG_261:g.41201G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000615"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "endIntronDirection": "+",
          "endIntronOffset": 9757,
          "referenceAllele": "G",
          "start": 456,
          "startIntronDirection": "+",
          "startIntronOffset": 9756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000674537.2:c.50+9757G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502725.1:n.50+9757G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906550"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006093",
      "geneNCBI_id": 3645,
      "geneSymbol": "INSRR",
      "hgvs": [
        "ENST00000368195.4:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357178.3:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750168",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368195.4:c.879C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014215.3:c.879C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357178.3:p.Phe293="
          },
          "RefSeq": {
            "hgvs": "NP_055030.1:p.Phe293="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 9757,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 9756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000392302.7:c.50+9757G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376120.3:n.50+9757G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 273,
          "endIntronDirection": "+",
          "endIntronOffset": 9757,
          "referenceAllele": "G",
          "start": 273,
          "startIntronDirection": "+",
          "startIntronOffset": 9756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000497019.7:c.50+9757G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436804.2:n.50+9757G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 9757,
          "referenceAllele": "G",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 9756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000674537.1:c.50+9757G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502725.1:n.50+9757G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1276,
          "referenceAllele": "C",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006093",
      "geneNCBI_id": 3645,
      "geneSymbol": "INSRR",
      "hgvs": [
        "ENST00000368195.3:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357178.3:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 9757,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 9756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000392302.6:c.122+9757G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376120.2:n.122+9757G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 312,
          "endIntronDirection": "+",
          "endIntronOffset": 9757,
          "referenceAllele": "G",
          "start": 312,
          "startIntronDirection": "+",
          "startIntronOffset": 9756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000489021.6:n.312+9757G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 273,
          "endIntronDirection": "+",
          "endIntronOffset": 9757,
          "referenceAllele": "G",
          "start": 273,
          "startIntronDirection": "+",
          "startIntronOffset": 9756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000497019.6:c.122+9757G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436804.1:n.122+9757G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "endIntronDirection": "+",
          "endIntronOffset": 9757,
          "referenceAllele": "G",
          "start": 270,
          "startIntronDirection": "+",
          "startIntronOffset": 9756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000530298.5:n.270+9757G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "endIntronDirection": "+",
          "endIntronOffset": 9757,
          "referenceAllele": "G",
          "start": 202,
          "startIntronDirection": "+",
          "startIntronOffset": 9756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_001007792.1:c.122+9757G>A",
        "LRG_261t1:c.122+9757G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007793.1:n.122+9757G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829744925",
      "coordinates": [
        {
          "allele": "T",
          "end": 1178,
          "referenceAllele": "C",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006093",
      "geneNCBI_id": 3645,
      "geneSymbol": "INSRR",
      "hgvs": [
        "NM_014215.2:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055030.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829744925",
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006093",
      "geneNCBI_id": 3645,
      "geneSymbol": "INSRR",
      "hgvs": [
        "NM_014215.3:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055030.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668230",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368195.4:c.879C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014215.3:c.879C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357178.3:p.Phe293="
          },
          "RefSeq": {
            "hgvs": "NP_055030.1:p.Phe293="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}