{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16620536",
  "communityStandardTitle": [
    "NM_032043.3(BRIP1):c.1234_1235del (p.Glu412SerfsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410148[alleleid]",
        "alleleId": 410148,
        "preferredName": "NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/422238",
        "RCV": [
          "RCV000479248",
          "RCV000575632",
          "RCV000853338",
          "RCV003335369",
          "RCV003766703"
        ],
        "variationId": 422238
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.59876566_59876567del?assembly=hg19",
        "id": "chr17:g.59876566_59876567del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.61799205_61799206del?assembly=hg38",
        "id": "chr17:g.61799205_61799206del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795649",
        "rs": 1064795649
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 61799207,
          "referenceAllele": "CT",
          "start": 61799205
        }
      ],
      "hgvs": [
        "NC_000017.11:g.61799206_61799207del",
        "CM000679.2:g.61799206_61799207del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 59876568,
          "referenceAllele": "CT",
          "start": 59876566
        }
      ],
      "hgvs": [
        "NC_000017.10:g.59876567_59876568del",
        "CM000679.1:g.59876567_59876568del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 57231350,
          "referenceAllele": "CT",
          "start": 57231348
        }
      ],
      "hgvs": [
        "NC_000017.9:g.57231349_57231350del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 69355,
          "referenceAllele": "AG",
          "start": 69353
        }
      ],
      "hgvs": [
        "NG_007409.2:g.69354_69355del",
        "LRG_300:g.69354_69355del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000572"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 728,
          "referenceAllele": "AG",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000579028.2:c.727_728del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463827.2:p.Glu243SerfsTer9",
        "hgvsWellDefined": "ENSP00000463827.2:p.[Glu243_Phe248delinsSerSer;Arg250_Asp254del;Met256del;Asn258_Val272delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826199"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1309,
          "referenceAllele": "AG",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000584322.2:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463272.2:p.Glu412SerfsTer9",
        "hgvsWellDefined": "ENSP00000463272.2:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826229"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 728,
          "referenceAllele": "AG",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682066.1:c.727_728del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507191.1:p.Glu243SerfsTer9",
        "hgvsWellDefined": "ENSP00000507191.1:p.[Glu243_Phe248delinsSerSer;Arg250_Asp254del;Met256del;Asn258_Val272delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827064"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1348,
          "referenceAllele": "AG",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682453.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506943.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "ENSP00000506943.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827443"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1444,
          "referenceAllele": "AG",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682477.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507075.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "ENSP00000507075.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827467"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2976,
          "referenceAllele": "AG",
          "start": 2974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682589.1:n.2975_2976del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827579"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 728,
          "referenceAllele": "AG",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682611.1:c.727_728del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508326.1:p.Glu243SerfsTer9",
        "hgvsWellDefined": "ENSP00000508326.1:p.[Glu243_Phe248delinsSerSer;Arg250_Asp254del;Met256del;Asn258_Val272delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827600"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "AG",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682755.1:c.1012_1013del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507660.1:p.Glu338SerfsTer9",
        "hgvsWellDefined": "ENSP00000507660.1:p.[Glu338_Phe343delinsSerSer;Arg345_Asp349del;Met351del;Asn353_Val367delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1478,
          "referenceAllele": "AG",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682989.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507786.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "ENSP00000507786.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827976"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1557,
          "referenceAllele": "AG",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683039.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508303.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "ENSP00000508303.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828026"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1488,
          "referenceAllele": "AG",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683235.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507646.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "ENSP00000507646.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828217"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1391,
          "referenceAllele": "AG",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683381.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508184.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "ENSP00000508184.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828360"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 813,
          "referenceAllele": "AG",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683692.1:c.812_813del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507964.1:n.812_813del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828663"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 728,
          "referenceAllele": "AG",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000684584.1:c.727_728del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508044.1:p.Glu243SerfsTer9",
        "hgvsWellDefined": "ENSP00000508044.1:p.[Glu243_Phe248delinsSerSer;Arg250_Asp254del;Met256del;Asn258_Val272delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829536"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1510,
          "referenceAllele": "AG",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000259008.7:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259008.2:p.Glu412SerfsTer9",
        "hgvsWellDefined": "ENSP00000259008.2:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741952",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259008.7:c.1234_1235del"
          },
          "RefSeq": {
            "hgvs": "NM_032043.3:c.1234_1235del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259008.2:p.Glu412SerfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_114432.2:p.Glu412SerfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1503,
          "referenceAllele": "AG",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000259008.6:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259008.2:p.Glu412SerfsTer9",
        "hgvsWellDefined": "ENSP00000259008.2:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250448"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1235,
          "referenceAllele": "AG",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000577598.5:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464654.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "ENSP00000464654.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384945"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1541,
          "referenceAllele": "AG",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NM_032043.2:c.1234_1235del",
        "LRG_300t1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114432.2:p.Glu412SerfsTer9",
        "hgvsWellDefined": "NP_114432.2:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1919,
          "referenceAllele": "AG",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525332.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523634.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523634.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092451"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1915,
          "referenceAllele": "AG",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525333.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523635.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523635.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092452"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1824,
          "referenceAllele": "AG",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525334.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523636.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523636.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092453"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1919,
          "referenceAllele": "AG",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525335.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523637.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523637.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092454"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1919,
          "referenceAllele": "AG",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525336.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523638.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523638.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1919,
          "referenceAllele": "AG",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525337.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523639.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523639.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092456"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 854,
          "referenceAllele": "AG",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525338.1:c.751_752del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523640.1:p.Glu251SerfsTer9",
        "hgvsWellDefined": "XP_011523640.1:p.[Glu251_Phe256delinsSerSer;Arg258_Asp262del;Met264del;Asn266_Val280delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092457"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1919,
          "referenceAllele": "AG",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525339.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523641.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523641.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092458"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1919,
          "referenceAllele": "AG",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525340.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523642.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523642.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1919,
          "referenceAllele": "AG",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525341.1:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523643.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523643.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092460"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1973,
          "referenceAllele": "AG",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525332.3:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523634.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523634.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547837"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1970,
          "referenceAllele": "AG",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525333.3:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523635.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523635.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2629,
          "referenceAllele": "AG",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525334.2:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523636.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523636.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547839"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1973,
          "referenceAllele": "AG",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525335.3:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523637.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523637.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547840"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1970,
          "referenceAllele": "AG",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525336.2:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523638.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523638.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547841"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1970,
          "referenceAllele": "AG",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525337.2:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523639.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523639.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547842"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 849,
          "referenceAllele": "AG",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525338.2:c.751_752del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523640.1:p.Glu251SerfsTer9",
        "hgvsWellDefined": "XP_011523640.1:p.[Glu251_Phe256delinsSerSer;Arg258_Asp262del;Met264del;Asn266_Val280delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547843"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2102,
          "referenceAllele": "AG",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525339.3:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523641.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523641.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547844"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2098,
          "referenceAllele": "AG",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525340.3:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523642.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523642.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1972,
          "referenceAllele": "AG",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525341.3:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523643.1:p.Glu412SerfsTer9",
        "hgvsWellDefined": "XP_011523643.1:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547846"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 849,
          "referenceAllele": "AG",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025200.1:c.751_752del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880689.1:p.Glu251SerfsTer9",
        "hgvsWellDefined": "XP_016880689.1:p.[Glu251_Phe256delinsSerSer;Arg258_Asp262del;Met264del;Asn266_Val280delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575589"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1554,
          "referenceAllele": "AG",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025201.1:c.691_692del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880690.1:p.Glu231SerfsTer9",
        "hgvsWellDefined": "XP_016880690.1:p.[Glu231_Phe236delinsSerSer;Arg238_Asp242del;Met244del;Asn246_Val260delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575590"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1510,
          "referenceAllele": "AG",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NM_032043.3:c.1234_1235del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114432.2:p.Glu412SerfsTer9",
        "hgvsWellDefined": "NP_114432.2:p.[Glu412_Phe417delinsSerSer;Arg419_Asp423del;Met425del;Asn427_Val441delinsCysSerGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259008.7:c.1234_1235del"
          },
          "RefSeq": {
            "hgvs": "NM_032043.3:c.1234_1235del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259008.2:p.Glu412SerfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_114432.2:p.Glu412SerfsTer9"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}