{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9965100",
  "communityStandardTitle": [
    "NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM6351523"
      },
      {
        "active": false,
        "id": "COSM6351524"
      },
      {
        "active": false,
        "id": "COSM6351525"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=390347[alleleid]",
        "alleleId": 390347,
        "preferredName": "NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/403398",
        "RCV": [
          "RCV000454461",
          "RCV000589402",
          "RCV001519412",
          "RCV001272646",
          "RCV001543245",
          "RCV001543246"
        ],
        "variationId": 403398
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-62320968-T-C",
        "id": "20-62320968-T-C",
        "variant": "20:62320968 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62320968T>C?assembly=hg19",
        "id": "chr20:g.62320968T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63689615T>C?assembly=hg38",
        "id": "chr20:g.63689615T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6062302",
        "rs": 6062302
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-62320968-T-C?dataset=gnomad_r2_1",
        "id": "20-62320968-T-C",
        "variant": "20:62320968 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63689615-T-C?dataset=gnomad_r3",
        "id": "20-63689615-T-C",
        "variant": "20:63689615 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63689615-T-C?dataset=gnomad_r4",
        "id": "20-63689615-T-C",
        "variant": "20:63689615 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 63689615,
          "referenceAllele": "T",
          "start": 63689614
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63689615T>C",
        "CM000682.2:g.63689615T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 62320968,
          "referenceAllele": "T",
          "start": 62320967
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62320968T>C",
        "CM000682.1:g.62320968T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 61791412,
          "referenceAllele": "T",
          "start": 61791411
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61791412T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 36806,
          "referenceAllele": "T",
          "start": 36805
        }
      ],
      "hgvs": [
        "NG_033901.1:g.36806T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1552,
          "endIntronDirection": "-",
          "endIntronOffset": 134,
          "referenceAllele": "T",
          "start": 1552,
          "startIntronDirection": "-",
          "startIntronOffset": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.7:n.1553-135T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1552,
          "endIntronDirection": "-",
          "endIntronOffset": 134,
          "referenceAllele": "T",
          "start": 1552,
          "startIntronDirection": "-",
          "startIntronOffset": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.6:c.1553-135T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 182,
          "referenceAllele": "T",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000697814.1:n.182T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2389,
          "referenceAllele": "T",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.7:c.2064T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:p.Asp688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1708,
          "endIntronDirection": "-",
          "endIntronOffset": 134,
          "referenceAllele": "T",
          "start": 1708,
          "startIntronDirection": "-",
          "startIntronOffset": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000687123.1:n.1709-135T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2036,
          "referenceAllele": "T",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.9:c.1323T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:p.Asp441="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2317,
          "referenceAllele": "T",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.11:c.1992T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Asp664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.1992T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.1992T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Asp664="
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Asp664="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2314,
          "referenceAllele": "T",
          "start": 2313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000482936.6:c.1992T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.2:p.Asp664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "referenceAllele": "T",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000496281.2:n.815T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2540,
          "referenceAllele": "T",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.8:c.1323T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:p.Asp441="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2317,
          "referenceAllele": "T",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.9:c.1992T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Asp664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2819,
          "referenceAllele": "T",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000370018.7:c.1992T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359035.3:p.Asp664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "endIntronDirection": "-",
          "endIntronOffset": 134,
          "referenceAllele": "T",
          "start": 204,
          "startIntronDirection": "-",
          "startIntronOffset": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.5:c.205-135T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388063.1:n.205-135T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2077,
          "referenceAllele": "T",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000480273.5:n.2077T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1992,
          "referenceAllele": "T",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000482936.5:c.1992T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.1:p.Asp664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2179,
          "referenceAllele": "T",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000492259.6:c.2076T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457428.1:p.Asp692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 286,
          "referenceAllele": "T",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000496281.1:n.286T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2410,
          "referenceAllele": "T",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.6:c.2064T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:p.Asp688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826679589",
      "coordinates": [
        {
          "allele": "C",
          "end": 2819,
          "referenceAllele": "T",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.1:c.1992T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Asp664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826681126",
      "coordinates": [
        {
          "allele": "C",
          "end": 2540,
          "referenceAllele": "T",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283010.1:c.1323T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269939.1:p.Asp441="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829835502",
      "coordinates": [
        {
          "allele": "C",
          "end": 2819,
          "referenceAllele": "T",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.3:c.1992T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:p.Asp664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830107199",
      "coordinates": [
        {
          "allele": "C",
          "end": 2891,
          "referenceAllele": "T",
          "start": 2890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.4:c.2064T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:p.Asp688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2819,
          "referenceAllele": "T",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "NR_037882.1:n.2819T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826679589",
      "coordinates": [
        {
          "allele": "C",
          "end": 2317,
          "referenceAllele": "T",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.2:c.1992T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Asp664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.1992T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.1992T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Asp664="
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Asp664="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829835502",
      "coordinates": [
        {
          "allele": "C",
          "end": 2317,
          "referenceAllele": "T",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.4:c.1992T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:p.Asp664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830107199",
      "coordinates": [
        {
          "allele": "C",
          "end": 2389,
          "referenceAllele": "T",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.5:c.2064T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:p.Asp688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699223"
    }
  ],
  "type": "nucleotide"
}