{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044127",
  "communityStandardTitle": [
    "NM_032043.3(BRIP1):c.1702_1703del (p.Asn568TrpfsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=223362[alleleid]",
        "alleleId": 223362,
        "preferredName": "NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/221621",
        "RCV": [
          "RCV000477976",
          "RCV000416663",
          "RCV000570267",
          "RCV000663330",
          "RCV000636137",
          "RCV003316152"
        ],
        "variationId": 221621
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.59858292_59858293del?assembly=hg19",
        "id": "chr17:g.59858292_59858293del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.61780931_61780932del?assembly=hg38",
        "id": "chr17:g.61780931_61780932del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519365",
        "rs": 1057519365
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-59858291-ATT-A?dataset=gnomad_r2_1",
        "id": "17-59858291-ATT-A",
        "variant": "17:59858291 ATT / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-61780930-ATT-A?dataset=gnomad_r4",
        "id": "17-61780930-ATT-A",
        "variant": "17:61780930 ATT / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 61780935,
          "referenceAllele": "TT",
          "start": 61780933
        }
      ],
      "hgvs": [
        "NC_000017.11:g.61780934_61780935del",
        "CM000679.2:g.61780934_61780935del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 59858296,
          "referenceAllele": "TT",
          "start": 59858294
        }
      ],
      "hgvs": [
        "NC_000017.10:g.59858295_59858296del",
        "CM000679.1:g.59858295_59858296del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 57213078,
          "referenceAllele": "TT",
          "start": 57213076
        }
      ],
      "hgvs": [
        "NC_000017.9:g.57213077_57213078del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 87629,
          "referenceAllele": "AA",
          "start": 87627
        }
      ],
      "hgvs": [
        "NG_007409.2:g.87628_87629del",
        "LRG_300:g.87628_87629del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000572"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1285,
          "referenceAllele": "AA",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000579028.2:c.1284_1285del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463827.2:n.1284_1285del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826199"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1777,
          "referenceAllele": "AA",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000584322.2:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463272.2:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "ENSP00000463272.2:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826229"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1196,
          "referenceAllele": "AA",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682066.1:c.1195_1196del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507191.1:p.Asn399TrpfsTer9",
        "hgvsWellDefined": "ENSP00000507191.1:p.[Asn399_Leu402delinsTrpVal;Leu404_Asn407delinsGlySerThr;Arg410_Ala428del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827064"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 443,
          "referenceAllele": "AA",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682073.1:n.442_443del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827071"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1816,
          "referenceAllele": "AA",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682453.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506943.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "ENSP00000506943.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827443"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2721,
          "referenceAllele": "AA",
          "start": 2719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682477.1:c.*1128_*1129del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507075.1:n.*1128_*1129del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827467"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3444,
          "referenceAllele": "AA",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682589.1:n.3443_3444del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827579"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1196,
          "referenceAllele": "AA",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682611.1:c.1195_1196del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508326.1:p.Asn399TrpfsTer9",
        "hgvsWellDefined": "ENSP00000508326.1:p.[Asn399_Leu402delinsTrpVal;Leu404_Asn407delinsGlySerThr;Arg410_Ala428del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827600"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1511,
          "referenceAllele": "AA",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682755.1:c.1480_1481del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507660.1:p.Asn494TrpfsTer9",
        "hgvsWellDefined": "ENSP00000507660.1:p.[Asn494_Leu497delinsTrpVal;Leu499_Asn502delinsGlySerThr;Arg505_Ala523del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1946,
          "referenceAllele": "AA",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682989.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507786.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "ENSP00000507786.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827976"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2025,
          "referenceAllele": "AA",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683039.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508303.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "ENSP00000508303.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828026"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1956,
          "referenceAllele": "AA",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683235.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507646.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "ENSP00000507646.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828217"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1859,
          "referenceAllele": "AA",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683381.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508184.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "ENSP00000508184.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828360"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1196,
          "referenceAllele": "AA",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000684584.1:c.1195_1196del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508044.1:p.Asn399TrpfsTer9",
        "hgvsWellDefined": "ENSP00000508044.1:p.[Asn399_Leu402delinsTrpVal;Leu404_Asn407delinsGlySerThr;Arg410_Ala428del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829536"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1978,
          "referenceAllele": "AA",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000259008.7:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259008.2:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "ENSP00000259008.2:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741952",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259008.7:c.1702_1703del"
          },
          "RefSeq": {
            "hgvs": "NM_032043.3:c.1702_1703del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259008.2:p.Asn568TrpfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_114432.2:p.Asn568TrpfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1971,
          "referenceAllele": "AA",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000259008.6:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259008.2:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "ENSP00000259008.2:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250448"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1703,
          "referenceAllele": "AA",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000577598.5:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464654.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "ENSP00000464654.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384945"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 396,
          "referenceAllele": "AA",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000579028.1:c.395_396del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385650"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2009,
          "referenceAllele": "AA",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NM_032043.2:c.1702_1703del",
        "LRG_300t1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114432.2:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "NP_114432.2:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2387,
          "referenceAllele": "AA",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525332.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523634.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523634.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092451"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2383,
          "referenceAllele": "AA",
          "start": 2381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525333.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523635.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523635.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092452"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2292,
          "referenceAllele": "AA",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525334.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523636.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523636.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092453"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2387,
          "referenceAllele": "AA",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525335.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523637.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523637.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092454"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2387,
          "referenceAllele": "AA",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525336.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523638.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523638.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2387,
          "referenceAllele": "AA",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525337.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523639.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523639.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092456"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1322,
          "referenceAllele": "AA",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525338.1:c.1219_1220del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523640.1:p.Asn407TrpfsTer9",
        "hgvsWellDefined": "XP_011523640.1:p.[Asn407_Leu410delinsTrpVal;Leu412_Asn415delinsGlySerThr;Arg418_Ala436del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092457"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2387,
          "referenceAllele": "AA",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525339.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523641.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523641.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092458"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2387,
          "referenceAllele": "AA",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525340.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523642.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523642.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2387,
          "referenceAllele": "AA",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525341.1:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523643.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523643.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092460"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2441,
          "referenceAllele": "AA",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525332.3:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523634.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523634.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547837"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2438,
          "referenceAllele": "AA",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525333.3:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523635.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523635.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3097,
          "referenceAllele": "AA",
          "start": 3095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525334.2:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523636.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523636.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547839"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2441,
          "referenceAllele": "AA",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525335.3:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523637.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523637.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547840"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2438,
          "referenceAllele": "AA",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525336.2:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523638.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523638.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547841"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2438,
          "referenceAllele": "AA",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525337.2:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523639.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523639.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547842"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1317,
          "referenceAllele": "AA",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525338.2:c.1219_1220del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523640.1:p.Asn407TrpfsTer9",
        "hgvsWellDefined": "XP_011523640.1:p.[Asn407_Leu410delinsTrpVal;Leu412_Asn415delinsGlySerThr;Arg418_Ala436del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547843"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2570,
          "referenceAllele": "AA",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525339.3:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523641.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523641.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547844"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2566,
          "referenceAllele": "AA",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525340.3:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523642.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523642.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2440,
          "referenceAllele": "AA",
          "start": 2438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525341.3:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523643.1:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "XP_011523643.1:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547846"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1317,
          "referenceAllele": "AA",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025200.1:c.1219_1220del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880689.1:p.Asn407TrpfsTer9",
        "hgvsWellDefined": "XP_016880689.1:p.[Asn407_Leu410delinsTrpVal;Leu412_Asn415delinsGlySerThr;Arg418_Ala436del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575589"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2022,
          "referenceAllele": "AA",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025201.1:c.1159_1160del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880690.1:p.Asn387TrpfsTer9",
        "hgvsWellDefined": "XP_016880690.1:p.[Asn387_Leu390delinsTrpVal;Leu392_Asn395delinsGlySerThr;Arg398_Ala416del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575590"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1978,
          "referenceAllele": "AA",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NM_032043.3:c.1702_1703del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114432.2:p.Asn568TrpfsTer9",
        "hgvsWellDefined": "NP_114432.2:p.[Asn568_Leu571delinsTrpVal;Leu573_Asn576delinsGlySerThr;Arg579_Ala597del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259008.7:c.1702_1703del"
          },
          "RefSeq": {
            "hgvs": "NM_032043.3:c.1702_1703del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259008.2:p.Asn568TrpfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_114432.2:p.Asn568TrpfsTer9"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}