{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580093926",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.1015_1016del (p.Lys339GlyfsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1695589[alleleid]",
        "alleleId": 1695589,
        "preferredName": "NM_007294.4(BRCA1):c.1015_1016del (p.Lys339fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1703198",
        "RCV": [
          "RCV002280321"
        ],
        "variationId": 1703198
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357569",
        "rs": 80357569
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 43094521,
          "referenceAllele": "TT",
          "start": 43094519
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43094520_43094521del",
        "CM000679.2:g.43094520_43094521del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 41246538,
          "referenceAllele": "TT",
          "start": 41246536
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41246537_41246538del",
        "CM000679.1:g.41246537_41246538del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 38500064,
          "referenceAllele": "TT",
          "start": 38500062
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38500063_38500064del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 123469,
          "referenceAllele": "AA",
          "start": 123467
        }
      ],
      "hgvs": [
        "NG_005905.2:g.123468_123469del",
        "LRG_292:g.123468_123469del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1080,
          "referenceAllele": "AA",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.1079_1080del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1135,
          "referenceAllele": "AA",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1197,
          "referenceAllele": "AA",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1003,
          "referenceAllele": "AA",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.889_890del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Lys297GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1122,
          "referenceAllele": "AA",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.1012_1013del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Lys338GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1051,
          "referenceAllele": "AA",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.937_938del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Lys313GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.784+228_784+229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.784+228_784+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1097,
          "referenceAllele": "AA",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.937_938del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Lys313GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.646+228_646+229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.646+228_646+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1209,
          "referenceAllele": "AA",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 376,
          "referenceAllele": "AA",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.127_128del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Lys43GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1663,
          "referenceAllele": "AA",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1032,
          "referenceAllele": "AA",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.892_893del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Lys298GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1129,
          "referenceAllele": "AA",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.646+228_646+229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.646+228_646+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1361,
          "referenceAllele": "AA",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.874_875del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Lys292GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.664+228_664+229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.664+228_664+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 798,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 798,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.706+228_706+229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.706+228_706+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1296,
          "referenceAllele": "AA",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*1023_*1024del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*1023_*1024del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1129,
          "referenceAllele": "AA",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1015_1016del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1015_1016del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Lys339GlyfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Lys339GlyfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1248,
          "referenceAllele": "AA",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1222,
          "referenceAllele": "AA",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000642945.1:c.*889_*890del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495897.1:n.*889_*890del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1361,
          "referenceAllele": "AA",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.874_875del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:p.Lys292GlyfsTer6",
        "hgvsWellDefined": "ENSP00000498906.1:p.[Lys292_Glu302delinsGly;Lys304Ser;Trp306_Pro312del;Ser314_Glu321del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 1331,
          "referenceAllele": "AA",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.670+1330_670+1331del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.670+1330_670+1331del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1080,
          "referenceAllele": "AA",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1135,
          "referenceAllele": "AA",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 367,
          "referenceAllele": "AA",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000412061.3:c.366_367del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1117,
          "referenceAllele": "AA",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*798_*799del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*798_*799del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.787+228_787+229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.787+228_787+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1177,
          "referenceAllele": "AA",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:p.Lys339GlyfsTer6",
        "hgvsWellDefined": "ENSP00000419274.1:p.[Lys339_Glu349delinsGly;Lys351Ser;Trp353_Pro359del;Ser361_Glu368del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1248,
          "referenceAllele": "AA",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 613,
          "referenceAllele": "AA",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.5:c.612_613del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247258"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1051,
          "referenceAllele": "AA",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.937_938del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:p.Lys313GlyfsTer6",
        "hgvsWellDefined": "ENSP00000419988.1:p.[Lys313_Glu323delinsGly;Lys325Ser;Trp327_Pro333del;Ser335_Glu342del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.784+228_784+229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.784+228_784+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.409+228_409+229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.409+228_409+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.412+228_412+229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.412+228_412+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.787+228_787+229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.787+228_787+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1181,
          "referenceAllele": "AA",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*951_*952del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*951_*952del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1107,
          "referenceAllele": "AA",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.874_875del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Lys292GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.646+228_646+229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.646+228_646+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1209,
          "referenceAllele": "AA",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:p.Lys339GlyfsTer6",
        "hgvsWellDefined": "ENSP00000419103.1:p.[Lys339_Glu349delinsGly;Lys351Ser;Trp353_Pro359del;Ser361_Glu368del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 376,
          "referenceAllele": "AA",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.127_128del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:p.Lys43GlyfsTer6",
        "hgvsWellDefined": "ENSP00000418986.1:p.[Lys43_Glu53delinsGly;Lys55Ser;Trp57_Pro63del;Ser65_Glu72del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 30563,
          "referenceAllele": "AA",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 30565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-30565_5-30564del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-30565_5-30564del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 19993,
          "referenceAllele": "AA",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 19995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-19995_-43-19994del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-19995_-43-19994del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 30756,
          "referenceAllele": "AA",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 30754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+30755_-99+30756del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+30755_-99+30756del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1032,
          "referenceAllele": "AA",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.892_893del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.Lys298GlyfsTer6",
        "hgvsWellDefined": "ENSP00000489431.1:p.[Lys298_Glu308delinsGly;Lys310Ser;Trp312_Pro318del;Ser320_Glu327del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1248,
          "referenceAllele": "AA",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.1015_1016del",
        "LRG_292t1:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1156,
          "referenceAllele": "AA",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.874_875del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Lys292GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.787+228_787+229del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.787+228_787+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.787+228_787+229del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+228_787+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1248,
          "referenceAllele": "AA",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1152,
          "referenceAllele": "AA",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.1151_1152del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1129,
          "referenceAllele": "AA",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1015_1016del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1015_1016del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Lys339GlyfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Lys339GlyfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1069,
          "referenceAllele": "AA",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.874_875del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Lys292GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 894,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "AA",
          "start": 894,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.787+228_787+229del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+228_787+229del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1129,
          "referenceAllele": "AA",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.1015_1016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Lys339GlyfsTer6"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1193,
          "referenceAllele": "AA",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.1192_1193del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}