{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA055087",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5467+22G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358926[alleleid]",
        "alleleId": 358926,
        "preferredName": "NM_007294.4(BRCA1):c.5467+22G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372004",
        "RCV": [
          "RCV000411389"
        ],
        "variationId": 372004
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-41199638-C-G",
        "id": "17-41199638-C-G",
        "variant": "17:41199638 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41199638C>G?assembly=hg19",
        "id": "chr17:g.41199638C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43047621C>G?assembly=hg38",
        "id": "chr17:g.43047621C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779046757",
        "rs": 779046757
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41199638-C-G?dataset=gnomad_r2_1",
        "id": "17-41199638-C-G",
        "variant": "17:41199638 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43047621-C-G?dataset=gnomad_r4",
        "id": "17-43047621-C-G",
        "variant": "17:43047621 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 43047621,
          "referenceAllele": "C",
          "start": 43047620
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43047621C>G",
        "CM000679.2:g.43047621C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41199638,
          "referenceAllele": "C",
          "start": 41199637
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41199638C>G",
        "CM000679.1:g.41199638C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38453164,
          "referenceAllele": "C",
          "start": 38453163
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38453164C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 170363,
          "referenceAllele": "G",
          "start": 170362
        }
      ],
      "hgvs": [
        "NG_005905.2:g.170363G>C",
        "LRG_292:g.170363G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5583,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5583,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5464+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:n.5464+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5648,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5648,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5467+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:n.5467+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5454,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5454,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.5341+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:n.5341+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5570,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5570,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.5461+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:n.5461+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5502,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5502,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.5389+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:n.5389+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2257,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 2257,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.2155+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.2155+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5548,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5548,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.5389+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:n.5389+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2249,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 2249,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.2017+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.2017+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5660,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5660,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5467+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:n.5467+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4827,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 4827,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4579+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:n.4579+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6114,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 6114,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5467+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:n.5467+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5483,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5483,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.5344+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:n.5344+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5646,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5646,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5533+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:n.5533+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2422,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 2422,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.2017+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.2017+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5812,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5812,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.5326+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:n.5326+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2121,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 2121,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.2029+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.2029+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1350,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 1350,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700081.1:n.1350+22G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 831,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 831,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700082.1:n.831+22G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5580,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5580,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5467+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:n.5467+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5467+22G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5467+22G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:n.5467+22G>C"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:n.5467+22G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5762,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5762,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5530+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:n.5530+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1854,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 1854,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1854+22G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2160,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 2160,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.2041+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.2041+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5586,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5586,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5467+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:n.5467+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5568,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5568,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*5250+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*5250+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2275,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 2275,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.2081+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.2081+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5762,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5762,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5530+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:n.5530+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2254,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 2254,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.2155+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.2155+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5558,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5558,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.5326+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:n.5326+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 541,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.397+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.397+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 1042,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.940+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.940+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.166+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.166+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5699,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5699,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5467+22G>C",
        "LRG_292t1:c.5467+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:n.5467+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5607,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5607,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.5326+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:n.5326+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2174,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 2174,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.2155+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.2155+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2275,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 2275,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.2081+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.2081+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5762,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5762,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5530+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:n.5530+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5603,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5603,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5603+22G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5580,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5580,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5467+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:n.5467+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5467+22G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5467+22G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:n.5467+22G>C"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:n.5467+22G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5520,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5520,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.5326+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:n.5326+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2188,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 2188,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.2081+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.2081+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5643,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5643,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5530+22G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:n.5530+22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5644,
          "endIntronDirection": "+",
          "endIntronOffset": 22,
          "referenceAllele": "G",
          "start": 5644,
          "startIntronDirection": "+",
          "startIntronOffset": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5644+22G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}