{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2260781908",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.4096+1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358178",
        "rs": 80358178
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 43091434,
          "referenceAllele": "C",
          "start": 43091433
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43091434C=",
        "CM000679.2:g.43091434C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41243451,
          "referenceAllele": "C",
          "start": 41243450
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41243451C=",
        "CM000679.1:g.41243451C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 38496977,
          "referenceAllele": "C",
          "start": 38496976
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38496977C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 126550,
          "referenceAllele": "G",
          "start": 126549
        }
      ],
      "hgvs": [
        "NG_005905.2:g.126550G=",
        "LRG_292:g.126550G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4161,
          "referenceAllele": "G",
          "start": 4160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.4161G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4215,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4215,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4277,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4277,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4083,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4083,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.3970+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:n.3970+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4202,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4202,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.4093+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:n.4093+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4131,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4131,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.4018+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:n.4018+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.785-402G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.785-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4177,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4177,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.4018+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:n.4018+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.647-402G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.647-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4289,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4289,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3456,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3456,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.3208+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:n.3208+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4743,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4743,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4112,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4112,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.3973+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:n.3973+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4209,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4209,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1051,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 1051,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.647-402G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.647-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4441,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4441,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.3955+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:n.3955+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.665-402G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.665-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 798,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.707-402G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.707-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4209,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4209,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.4096+1G="
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.4096+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:n.4096+1G="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:n.4096+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4328,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4328,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 417,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 417,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.417+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.671-402G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.671-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4161,
          "referenceAllele": "G",
          "start": 4160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.4097G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Gly1366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4215,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4215,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4197,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4197,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*3879+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*3879+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 390,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.1:c.390+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.788-402G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.788-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4328,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4328,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.785-402G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.785-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.410-402G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.410-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 412,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.413-402G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.413-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.788-402G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.788-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4187,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4187,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.3955+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:n.3955+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.647-402G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.647-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 27482,
          "referenceAllele": "G",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 27483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-27483G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-27483G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 16912,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 16913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-16913G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-16913G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 33837,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 33836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+33837G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+33837G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4328,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4328,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.4096+1G=",
        "LRG_292t1:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4236,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4236,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.3955+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:n.3955+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.788-402G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.788-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.788-402G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4328,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4328,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4232,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4232,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.4232+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4209,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4209,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.4096+1G="
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.4096+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:n.4096+1G="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:n.4096+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4149,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4149,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.3955+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:n.3955+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "G",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.788-402G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-402G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4209,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4209,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.4096+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:n.4096+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4273,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4273,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.4273+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}