{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA001393",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.2105dup (p.Leu702PhefsTer10)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46001[alleleid]",
        "alleleId": 46001,
        "preferredName": "NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37445",
        "RCV": [
          "RCV000031026",
          "RCV000233676",
          "RCV000574609",
          "RCV000758793"
        ],
        "variationId": 37445
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41245443dupA?assembly=hg19",
        "id": "chr17:g.41245443dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41245442_41245443insA?assembly=hg19",
        "id": "chr17:g.41245442_41245443insA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43093426dupA?assembly=hg38",
        "id": "chr17:g.43093426dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43093425_43093426insA?assembly=hg38",
        "id": "chr17:g.43093425_43093426insA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357880",
        "rs": 80357880
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43093427,
          "referenceAllele": "",
          "start": 43093427
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43093427dup",
        "CM000679.2:g.43093427dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41245444,
          "referenceAllele": "",
          "start": 41245444
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41245444dup",
        "CM000679.1:g.41245444dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38498970,
          "referenceAllele": "",
          "start": 38498970
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38498970dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124558,
          "referenceAllele": "",
          "start": 124558
        }
      ],
      "hgvs": [
        "NG_005905.2:g.124558dup",
        "LRG_292:g.124558dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2169,
          "referenceAllele": "",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.2169dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2224,
          "referenceAllele": "",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2286,
          "referenceAllele": "",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2092,
          "referenceAllele": "",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.1979dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Leu660PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2211,
          "referenceAllele": "",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.2102dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Leu701PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2140,
          "referenceAllele": "",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.2027dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Leu676PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.784+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.784+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2186,
          "referenceAllele": "",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.2027dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Leu676PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.646+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.646+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2298,
          "referenceAllele": "",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.1217dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Leu406PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2752,
          "referenceAllele": "",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.1982dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Leu661PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2218,
          "referenceAllele": "",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.646+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.646+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2450,
          "referenceAllele": "",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.1964dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Leu655PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.664+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.664+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 798,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.706+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.706+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2218,
          "referenceAllele": "",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.2105dup"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.2105dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Leu702PhefsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Leu702PhefsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2337,
          "referenceAllele": "",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 2393,
          "referenceAllele": "",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 2393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.671-2394dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.671-2394dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2169,
          "referenceAllele": "",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Leu702PhefsTer10",
        "hgvsWellDefined": "ENSP00000326002.7:p.[Leu702_Thr703delinsPhe;Ala705_Thr710del;Ser713_Asn714del;Ser716_Glu720delinsTrpPhe;Val722_Lys731delinsTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2224,
          "referenceAllele": "",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2206,
          "referenceAllele": "",
          "start": 2206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*1888dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*1888dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.787+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.787+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2337,
          "referenceAllele": "",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.784+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.784+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.409+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.409+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.412+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.412+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.787+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.787+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2196,
          "referenceAllele": "",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.1964dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Leu655PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.646+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.646+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 29474,
          "referenceAllele": "",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 29474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-29475dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-29475dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 18904,
          "referenceAllele": "",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 18904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-18905dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-18905dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 31845,
          "referenceAllele": "",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 31845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+31845dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+31845dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.1982dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.Leu661PhefsTer10",
        "hgvsWellDefined": "ENSP00000489431.1:p.[Leu661_Thr662delinsPhe;Ala664_Thr669del;Ser672_Asn673del;Ser675_Glu679delinsTrpPhe;Val681_Lys690delinsTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2337,
          "referenceAllele": "",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.2105dup",
        "LRG_292t1:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2245,
          "referenceAllele": "",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.1964dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Leu655PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.787+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.787+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.787+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2337,
          "referenceAllele": "",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2241,
          "referenceAllele": "",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.2241dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2218,
          "referenceAllele": "",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.2105dup"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.2105dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Leu702PhefsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Leu702PhefsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2158,
          "referenceAllele": "",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.1964dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Leu655PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 894,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "",
          "start": 894,
          "startIntronDirection": "+",
          "startIntronOffset": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.787+1318dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+1318dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2218,
          "referenceAllele": "",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.2105dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Leu702PhefsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2282,
          "referenceAllele": "",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.2282dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}