{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1319416591",
  "communityStandardTitle": [
    "NM_033030.6(BOLL):c.481-387C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/700651",
        "rs": 700651
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 197766990,
          "referenceAllele": "G",
          "start": 197766989
        }
      ],
      "hgvs": [
        "NC_000002.12:g.197766990G=",
        "CM000664.2:g.197766990G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 198631714,
          "referenceAllele": "G",
          "start": 198631713
        }
      ],
      "hgvs": [
        "NC_000002.11:g.198631714G=",
        "CM000664.1:g.198631714G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 198339959,
          "referenceAllele": "G",
          "start": 198339958
        }
      ],
      "hgvs": [
        "NC_000002.10:g.198339959G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 759,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "ENST00000696103.1:c.685-387C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512398.1:n.685-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 759,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "ENST00000392296.9:c.481-387C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376116.4:n.481-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392296.9:c.481-387C="
          },
          "RefSeq": {
            "hgvs": "NM_033030.6:c.481-387C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376116.4:n.481-387C="
          },
          "RefSeq": {
            "hgvs": "NP_149019.1:n.481-387C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "ENST00000282278.12:c.154-387C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282278.8:n.154-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1087,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 1087,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "ENST00000321801.11:c.517-387C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314792.7:n.517-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 790,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "ENST00000392296.8:c.481-387C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376116.4:n.481-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 877,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "ENST00000430004.5:c.481-387C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397711.1:n.481-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 877,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "ENST00000433157.1:c.481-387C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396099.1:n.481-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "ENST00000434976.5:c.*122-387C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416911.1:n.*122-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "NM_001284358.1:c.154-387C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001271287.1:n.154-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022600"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 877,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "NM_001284361.1:c.499-387C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001271290.1:n.499-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022601"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 877,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "NM_001284362.1:c.499-387C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001271291.1:n.499-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 790,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "NM_033030.5:c.481-387C="
      ],
      "proteinEffect": {
        "hgvs": "NP_149019.1:n.481-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "NM_197970.2:c.517-387C="
      ],
      "proteinEffect": {
        "hgvs": "NP_932074.1:n.517-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1087,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 1087,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "XM_006712715.2:c.517-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712778.1:n.517-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1087,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 1087,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "XM_011511692.1:c.517-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509994.1:n.517-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1087,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 1087,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "XM_011511693.1:c.517-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509995.1:n.517-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "XM_011511694.1:c.481-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509996.1:n.481-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1087,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 1087,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "XM_011511695.1:c.517-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509997.1:n.517-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078956"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 825,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 825,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "XM_006712715.4:c.517-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712778.1:n.517-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 825,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 825,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "XM_011511692.3:c.517-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509994.1:n.517-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 825,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 825,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "XM_011511693.3:c.517-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509995.1:n.517-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "XM_011511694.2:c.481-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509996.1:n.481-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 825,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 825,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "XM_017004773.2:c.517-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860262.1:n.517-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560200"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 809,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "XM_024453053.1:c.511-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308821.1:n.511-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "XM_024453054.1:c.481-387C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308822.1:n.481-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1186,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 1186,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "NM_001284361.2:c.499-387C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001271290.1:n.499-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1186,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 1186,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "NM_001284362.2:c.499-387C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001271291.1:n.499-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 759,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "NM_033030.6:c.481-387C="
      ],
      "proteinEffect": {
        "hgvs": "NP_149019.1:n.481-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392296.9:c.481-387C="
          },
          "RefSeq": {
            "hgvs": "NM_033030.6:c.481-387C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376116.4:n.481-387C="
          },
          "RefSeq": {
            "hgvs": "NP_149019.1:n.481-387C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 719,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "NM_197970.3:c.517-387C="
      ],
      "proteinEffect": {
        "hgvs": "NP_932074.1:n.517-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "C",
          "start": 588,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014273",
      "geneNCBI_id": 66037,
      "geneSymbol": "BOLL",
      "hgvs": [
        "NM_001284358.2:c.154-387C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001271287.1:n.154-387C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716079"
    }
  ],
  "type": "nucleotide"
}