{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA002008",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46060[alleleid]",
        "alleleId": 46060,
        "preferredName": "NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37504",
        "RCV": [
          "RCV000031085",
          "RCV000048061",
          "RCV000132486",
          "RCV000589797"
        ],
        "variationId": 37504
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-41244493-T-C",
        "id": "17-41244493-T-C",
        "variant": "17:41244493 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41244493T>C?assembly=hg19",
        "id": "chr17:g.41244493T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43092476T>C?assembly=hg38",
        "id": "chr17:g.43092476T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357311",
        "rs": 80357311
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41244493-T-C?dataset=gnomad_r2_1",
        "id": "17-41244493-T-C",
        "variant": "17:41244493 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43092476-T-C?dataset=gnomad_r3",
        "id": "17-43092476-T-C",
        "variant": "17:43092476 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43092476-T-C?dataset=gnomad_r4",
        "id": "17-43092476-T-C",
        "variant": "17:43092476 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 43092476,
          "referenceAllele": "T",
          "start": 43092475
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43092476T>C",
        "CM000679.2:g.43092476T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41244493,
          "referenceAllele": "T",
          "start": 41244492
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41244493T>C",
        "CM000679.1:g.41244493T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 38498019,
          "referenceAllele": "T",
          "start": 38498018
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38498019T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 125508,
          "referenceAllele": "A",
          "start": 125507
        }
      ],
      "hgvs": [
        "NG_005905.2:g.125508A>G",
        "LRG_292:g.125508A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3119,
          "referenceAllele": "A",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.3119A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3174,
          "referenceAllele": "A",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Ile1019Val",
        "hgvsWellDefined": "ENSP00000417241.2:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3236,
          "referenceAllele": "A",
          "start": 3235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Ile1019Val",
        "hgvsWellDefined": "ENSP00000419274.2:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3042,
          "referenceAllele": "A",
          "start": 3041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.2929A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Ile977Val",
        "hgvsWellDefined": "ENSP00000420201.2:p.Ile977Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3161,
          "referenceAllele": "A",
          "start": 3160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.3052A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Ile1018Val",
        "hgvsWellDefined": "ENSP00000417554.2:p.Ile1018Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3090,
          "referenceAllele": "A",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.2977A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Ile993Val",
        "hgvsWellDefined": "ENSP00000419988.2:p.Ile993Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.785-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.785-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3136,
          "referenceAllele": "A",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.2977A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Ile993Val",
        "hgvsWellDefined": "ENSP00000420781.2:p.Ile993Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.647-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.647-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3248,
          "referenceAllele": "A",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Ile1019Val",
        "hgvsWellDefined": "ENSP00000419103.2:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2415,
          "referenceAllele": "A",
          "start": 2414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.2167A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Ile723Val",
        "hgvsWellDefined": "ENSP00000418986.2:p.Ile723Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3702,
          "referenceAllele": "A",
          "start": 3701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Ile1019Val",
        "hgvsWellDefined": "ENSP00000478114.2:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3071,
          "referenceAllele": "A",
          "start": 3070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.2932A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Ile978Val",
        "hgvsWellDefined": "ENSP00000489431.2:p.Ile978Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3168,
          "referenceAllele": "A",
          "start": 3167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Ile1019Val",
        "hgvsWellDefined": "ENSP00000496570.2:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1051,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 1051,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.647-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.647-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3400,
          "referenceAllele": "A",
          "start": 3399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.2914A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Ile972Val",
        "hgvsWellDefined": "ENSP00000498906.2:p.Ile972Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.665-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.665-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 798,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.707-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.707-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3168,
          "referenceAllele": "A",
          "start": 3167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Ile1019Val",
        "hgvsWellDefined": "ENSP00000350283.3:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3055A>G"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3055A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Ile1019Val"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Ile1019Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3287,
          "referenceAllele": "A",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Ile1019Val",
        "hgvsWellDefined": "ENSP00000418960.2:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.671-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.671-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3119,
          "referenceAllele": "A",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Ile1019Val",
        "hgvsWellDefined": "ENSP00000326002.7:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3174,
          "referenceAllele": "A",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Ile1019Val",
        "hgvsWellDefined": "ENSP00000350283.3:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3156,
          "referenceAllele": "A",
          "start": 3155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*2838A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*2838A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.788-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.788-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3287,
          "referenceAllele": "A",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Ile1019Val",
        "hgvsWellDefined": "ENSP00000418960.2:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.785-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.785-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.410-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.410-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 412,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.413-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.413-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.788-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.788-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3146,
          "referenceAllele": "A",
          "start": 3145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.2914A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Ile972Val",
        "hgvsWellDefined": "ENSP00000418775.1:p.Ile972Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.647-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.647-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 28524,
          "referenceAllele": "A",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 28525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-28525A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-28525A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 17954,
          "referenceAllele": "A",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 17955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-17955A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-17955A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 32795,
          "referenceAllele": "A",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 32794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+32795A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+32795A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA169933",
      "coordinates": [
        {
          "allele": "G",
          "end": 3287,
          "referenceAllele": "A",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.3055A>G",
        "LRG_292t1:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Ile1019Val",
        "hgvsWellDefined": "NP_009225.1:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992161",
      "coordinates": [
        {
          "allele": "G",
          "end": 3195,
          "referenceAllele": "A",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.2914A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Ile972Val",
        "hgvsWellDefined": "NP_009228.2:p.Ile972Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.788-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.788-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.788-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829720980",
      "coordinates": [
        {
          "allele": "G",
          "end": 3287,
          "referenceAllele": "A",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Ile1019Val",
        "hgvsWellDefined": "NP_009231.2:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3191,
          "referenceAllele": "A",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.3191A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA169933",
      "coordinates": [
        {
          "allele": "G",
          "end": 3168,
          "referenceAllele": "A",
          "start": 3167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Ile1019Val",
        "hgvsWellDefined": "NP_009225.1:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3055A>G"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3055A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Ile1019Val"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Ile1019Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992161",
      "coordinates": [
        {
          "allele": "G",
          "end": 3108,
          "referenceAllele": "A",
          "start": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.2914A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Ile972Val",
        "hgvsWellDefined": "NP_009228.2:p.Ile972Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 1443,
          "referenceAllele": "A",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.788-1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-1444A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829720980",
      "coordinates": [
        {
          "allele": "G",
          "end": 3168,
          "referenceAllele": "A",
          "start": 3167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.3055A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Ile1019Val",
        "hgvsWellDefined": "NP_009231.2:p.Ile1019Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3232,
          "referenceAllele": "A",
          "start": 3231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.3232A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}