{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1979709795",
  "communityStandardTitle": [
    "NM_024649.5(BBS1):c.831-3C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994179",
        "rs": 113994179
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 66523453,
          "referenceAllele": "C",
          "start": 66523452
        }
      ],
      "hgvs": [
        "NC_000011.10:g.66523453C=",
        "CM000673.2:g.66523453C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 66290924,
          "referenceAllele": "C",
          "start": 66290923
        }
      ],
      "hgvs": [
        "NC_000011.9:g.66290924C=",
        "CM000673.1:g.66290924C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 66047500,
          "referenceAllele": "C",
          "start": 66047499
        }
      ],
      "hgvs": [
        "NC_000011.8:g.66047500C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17806,
          "referenceAllele": "C",
          "start": 17805
        }
      ],
      "hgvs": [
        "NG_009093.1:g.17806C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001426"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 855,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000318312.12:c.831-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317469.7:n.831-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746208",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318312.12:c.831-3C="
          },
          "RefSeq": {
            "hgvs": "NM_024649.5:c.831-3C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317469.7:n.831-3C="
          },
          "RefSeq": {
            "hgvs": "NP_078925.3:n.831-3C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 881,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 881,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000318312.11:c.831-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317469.7:n.831-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "endIntronDirection": "-",
          "endIntronOffset": 2669,
          "referenceAllele": "C",
          "start": 728,
          "startIntronDirection": "-",
          "startIntronOffset": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000393994.4:c.724-2670C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377563.2:n.724-2670C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275921"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1019,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "hgvs": [
        "ENST00000419755.3:c.942-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398526.3:n.942-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000455748.6:c.540-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405764.2:n.540-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000524458.5:c.*620-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436195.1:n.*620-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 515,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000524884.1:n.516-3C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 581,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000525809.5:c.558-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431187.1:n.558-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 807,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 807,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000526035.5:c.*534-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434197.1:n.*534-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 849,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 849,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000526760.5:c.*538-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432140.1:n.*538-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "endIntronDirection": "-",
          "endIntronOffset": 1986,
          "referenceAllele": "G",
          "start": 1039,
          "startIntronDirection": "-",
          "startIntronOffset": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027387",
      "geneNCBI_id": 254359,
      "geneSymbol": "ZDHHC24",
      "hgvs": [
        "ENST00000526986.5:c.*22-1987G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431321.1:n.*22-1987G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 837,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 837,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000529766.5:n.838-3C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000529895.1:n.277C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 801,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 801,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000529955.5:n.802-3C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 759,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000532908.5:c.*491-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431866.1:n.*491-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 967,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 967,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000533557.5:c.*685-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434619.1:n.*685-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 834,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 834,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000533644.5:c.*289-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436073.1:n.*289-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 785,
          "endIntronDirection": "+",
          "endIntronOffset": 702,
          "referenceAllele": "G",
          "start": 785,
          "startIntronDirection": "+",
          "startIntronOffset": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027387",
      "geneNCBI_id": 254359,
      "geneSymbol": "ZDHHC24",
      "hgvs": [
        "ENST00000534073.5:c.*143+702G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436503.1:n.*143+702G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 800,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 800,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "ENST00000630659.2:c.*538-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486455.1:n.*538-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "NM_024649.4:c.831-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_078925.3:n.831-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "endIntronDirection": "-",
          "endIntronOffset": 1986,
          "referenceAllele": "G",
          "start": 686,
          "startIntronDirection": "-",
          "startIntronOffset": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027387",
      "geneNCBI_id": 254359,
      "geneSymbol": "ZDHHC24",
      "hgvs": [
        "XM_005273874.3:c.*22-1987G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273931.1:n.*22-1987G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 808,
          "endIntronDirection": "+",
          "endIntronOffset": 702,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "+",
          "startIntronOffset": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027387",
      "geneNCBI_id": 254359,
      "geneSymbol": "ZDHHC24",
      "hgvs": [
        "XR_949860.1:n.808+702G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1042,
          "endIntronDirection": "-",
          "endIntronOffset": 1986,
          "referenceAllele": "G",
          "start": 1042,
          "startIntronDirection": "-",
          "startIntronOffset": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027387",
      "geneNCBI_id": 254359,
      "geneSymbol": "ZDHHC24",
      "hgvs": [
        "NM_001348571.1:c.*22-1987G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335500.1:n.*22-1987G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518278"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "endIntronDirection": "-",
          "endIntronOffset": 1986,
          "referenceAllele": "G",
          "start": 811,
          "startIntronDirection": "-",
          "startIntronOffset": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027387",
      "geneNCBI_id": 254359,
      "geneSymbol": "ZDHHC24",
      "hgvs": [
        "XM_005273874.4:c.*22-1987G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273931.1:n.*22-1987G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "endIntronDirection": "+",
          "endIntronOffset": 702,
          "referenceAllele": "G",
          "start": 862,
          "startIntronDirection": "+",
          "startIntronOffset": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027387",
      "geneNCBI_id": 254359,
      "geneSymbol": "ZDHHC24",
      "hgvs": [
        "XR_001747823.2:n.862+702G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 933,
          "endIntronDirection": "+",
          "endIntronOffset": 702,
          "referenceAllele": "G",
          "start": 933,
          "startIntronDirection": "+",
          "startIntronOffset": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027387",
      "geneNCBI_id": 254359,
      "geneSymbol": "ZDHHC24",
      "hgvs": [
        "XR_949860.3:n.933+702G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 855,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000966",
      "geneNCBI_id": 582,
      "geneSymbol": "BBS1",
      "hgvs": [
        "NM_024649.5:c.831-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_078925.3:n.831-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670731",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318312.12:c.831-3C="
          },
          "RefSeq": {
            "hgvs": "NM_024649.5:c.831-3C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317469.7:n.831-3C="
          },
          "RefSeq": {
            "hgvs": "NP_078925.3:n.831-3C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 852,
          "endIntronDirection": "-",
          "endIntronOffset": 1986,
          "referenceAllele": "G",
          "start": 852,
          "startIntronDirection": "-",
          "startIntronOffset": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027387",
      "geneNCBI_id": 254359,
      "geneSymbol": "ZDHHC24",
      "hgvs": [
        "NM_001348571.2:c.*22-1987G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335500.1:n.*22-1987G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719176"
    }
  ],
  "type": "nucleotide"
}