{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9965827",
  "communityStandardTitle": [
    "NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=786455[alleleid]",
        "alleleId": 786455,
        "preferredName": "NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/792250",
        "RCV": [
          "RCV000975341",
          "RCV001832221",
          "RCV002511005"
        ],
        "variationId": 792250
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-62325819-G-A",
        "id": "20-62325819-G-A",
        "variant": "20:62325819 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62325819G>A?assembly=hg19",
        "id": "chr20:g.62325819G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63694466G>A?assembly=hg38",
        "id": "chr20:g.63694466G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753147923",
        "rs": 753147923
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-62325819-G-A?dataset=gnomad_r2_1",
        "id": "20-62325819-G-A",
        "variant": "20:62325819 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63694466-G-A?dataset=gnomad_r3",
        "id": "20-63694466-G-A",
        "variant": "20:63694466 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63694466-G-A?dataset=gnomad_r4",
        "id": "20-63694466-G-A",
        "variant": "20:63694466 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 63694466,
          "referenceAllele": "G",
          "start": 63694465
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63694466G>A",
        "CM000682.2:g.63694466G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 62325819,
          "referenceAllele": "G",
          "start": 62325818
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62325819G>A",
        "CM000682.1:g.62325819G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 61796263,
          "referenceAllele": "G",
          "start": 61796262
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61796263G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41657,
          "referenceAllele": "G",
          "start": 41656
        }
      ],
      "hgvs": [
        "NG_033901.1:g.41657G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2816,
          "referenceAllele": "G",
          "start": 2815
        }
      ],
      "hgvs": [
        "NG_046961.1:g.2816G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616498"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1834,
          "referenceAllele": "G",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000697815.1:n.1834G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3484,
          "referenceAllele": "G",
          "start": 3483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.7:c.3159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:p.Leu1053="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3131,
          "referenceAllele": "G",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.9:c.2418G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:p.Leu806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3412,
          "referenceAllele": "G",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.11:c.3087G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Leu1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.3087G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.3087G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Leu1029="
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Leu1029="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3405,
          "referenceAllele": "G",
          "start": 3404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000482936.6:c.*68G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.2:n.*68G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3098,
          "referenceAllele": "G",
          "start": 3097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000496281.2:n.3098G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3635,
          "referenceAllele": "G",
          "start": 3634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.8:c.2418G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:p.Leu806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3412,
          "referenceAllele": "G",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.9:c.3087G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Leu1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000370003.2:c.822G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359020.1:p.Leu274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3914,
          "referenceAllele": "G",
          "start": 3913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000370018.7:c.3087G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359035.3:p.Leu1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3172,
          "referenceAllele": "G",
          "start": 3171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000480273.5:n.3172G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3087,
          "referenceAllele": "G",
          "start": 3086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000482936.5:c.3087G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.1:p.Leu1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3150,
          "referenceAllele": "G",
          "start": 3149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000492259.6:c.*689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457428.1:n.*689G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2569,
          "referenceAllele": "G",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000496281.1:n.2569G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000496816.5:c.1019G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425576.1:n.1019G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.6:c.3159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:p.Leu1053="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826680267",
      "coordinates": [
        {
          "allele": "A",
          "end": 3914,
          "referenceAllele": "G",
          "start": 3913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.1:c.3087G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Leu1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826681762",
      "coordinates": [
        {
          "allele": "A",
          "end": 3635,
          "referenceAllele": "G",
          "start": 3634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283010.1:c.2418G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269939.1:p.Leu806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829836763",
      "coordinates": [
        {
          "allele": "A",
          "end": 3914,
          "referenceAllele": "G",
          "start": 3913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.3:c.3087G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:p.Leu1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830107777",
      "coordinates": [
        {
          "allele": "A",
          "end": 3986,
          "referenceAllele": "G",
          "start": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.4:c.3159G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:p.Leu1053="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3914,
          "referenceAllele": "G",
          "start": 3913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "NR_037882.1:n.3914G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826680267",
      "coordinates": [
        {
          "allele": "A",
          "end": 3412,
          "referenceAllele": "G",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.2:c.3087G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Leu1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.3087G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.3087G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Leu1029="
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Leu1029="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829836763",
      "coordinates": [
        {
          "allele": "A",
          "end": 3412,
          "referenceAllele": "G",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.4:c.3087G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:p.Leu1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830107777",
      "coordinates": [
        {
          "allele": "A",
          "end": 3484,
          "referenceAllele": "G",
          "start": 3483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.5:c.3159G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:p.Leu1053="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699223"
    }
  ],
  "type": "nucleotide"
}