{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16620519",
  "communityStandardTitle": [
    "NM_032043.3(BRIP1):c.2330del (p.Arg777LeufsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410129[alleleid]",
        "alleleId": 410129,
        "preferredName": "NM_032043.3(BRIP1):c.2330del (p.Arg777fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420764",
        "RCV": [
          "RCV000477985",
          "RCV003168952"
        ],
        "variationId": 420764
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.59820423del?assembly=hg19",
        "id": "chr17:g.59820423del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.61743062del?assembly=hg38",
        "id": "chr17:g.61743062del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794689",
        "rs": 1064794689
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 61743062,
          "referenceAllele": "C",
          "start": 61743061
        }
      ],
      "hgvs": [
        "NC_000017.11:g.61743062del",
        "CM000679.2:g.61743062del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 59820423,
          "referenceAllele": "C",
          "start": 59820422
        }
      ],
      "hgvs": [
        "NC_000017.10:g.59820423del",
        "CM000679.1:g.59820423del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 57175205,
          "referenceAllele": "C",
          "start": 57175204
        }
      ],
      "hgvs": [
        "NC_000017.9:g.57175205del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 125498,
          "referenceAllele": "G",
          "start": 125497
        }
      ],
      "hgvs": [
        "NG_007409.2:g.125498del",
        "LRG_300:g.125498del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000572"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2404,
          "referenceAllele": "G",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000584322.2:c.2330del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463272.2:p.Arg777LeufsTer4",
        "hgvsWellDefined": "ENSP00000463272.2:p.[Arg777_Asp791del;Gln793del;Thr795del;Ala797_Ala806del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826229"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2460,
          "referenceAllele": "G",
          "start": 2459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682066.1:c.2460del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507191.1:n.2460del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827064"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1070,
          "referenceAllele": "G",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682073.1:n.1070del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827071"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1409,
          "referenceAllele": "G",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682433.1:n.1409del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827423"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2443,
          "referenceAllele": "G",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682453.1:c.2330del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506943.1:p.Arg777LeufsTer4",
        "hgvsWellDefined": "ENSP00000506943.1:p.[Arg777_Asp791del;Gln793_Glu795del;Lys797_His804del;Lys806del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827443"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3348,
          "referenceAllele": "G",
          "start": 3347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682477.1:c.*1756del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507075.1:n.*1756del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827467"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8207,
          "referenceAllele": "G",
          "start": 8206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682589.1:n.8207del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827579"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2138,
          "referenceAllele": "G",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682755.1:c.2108del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507660.1:p.Arg703LeufsTer4",
        "hgvsWellDefined": "ENSP00000507660.1:p.[Arg703_Asp717del;Gln719_Glu721del;Lys723_His730del;Lys732del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2573,
          "referenceAllele": "G",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682989.1:c.2330del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507786.1:p.Arg777LeufsTer4",
        "hgvsWellDefined": "ENSP00000507786.1:p.[Arg777_Asp791del;Gln793_Glu795del;Lys797_His804del;Lys806del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827976"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2652,
          "referenceAllele": "G",
          "start": 2651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683039.1:c.2330del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508303.1:p.Arg777LeufsTer4",
        "hgvsWellDefined": "ENSP00000508303.1:p.[Arg777_Asp791del;Gln793_Glu795del;Lys797_His804del;Lys806del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828026"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2583,
          "referenceAllele": "G",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683235.1:c.2330del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507646.1:p.Arg777LeufsTer4",
        "hgvsWellDefined": "ENSP00000507646.1:p.[Arg777_Asp791del;Gln793_Glu795del;Lys797_His804del;Lys806del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828217"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2546,
          "referenceAllele": "G",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683381.1:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508184.1:p.Arg797LeufsTer4",
        "hgvsWellDefined": "ENSP00000508184.1:p.[Arg797_Asp811del;Gln813del;Thr815del;Ala817_Ala826del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828360"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683535.1:n.460del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828509"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000684471.1:n.743del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829425"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000684584.1:c.1823del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508044.1:p.Arg608LeufsTer4",
        "hgvsWellDefined": "ENSP00000508044.1:p.[Arg608_Asp622del;Gln624_Glu626del;Lys628_His635del;Lys637del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829536"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000684769.1:c.395del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507691.1:p.Arg132LeufsTer4",
        "hgvsWellDefined": "ENSP00000507691.1:p.[Arg132_Asp146del;Gln148_Glu150del;Lys152_His159del;Lys161del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829719"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2605,
          "referenceAllele": "G",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000259008.7:c.2330del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259008.2:p.Arg777LeufsTer4",
        "hgvsWellDefined": "ENSP00000259008.2:p.[Arg777_Asp791del;Gln793_Glu795del;Lys797_His804del;Lys806del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741952",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259008.7:c.2330del"
          },
          "RefSeq": {
            "hgvs": "NM_032043.3:c.2330del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259008.2:p.Arg777LeufsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_114432.2:p.Arg777LeufsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2598,
          "referenceAllele": "G",
          "start": 2597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000259008.6:c.2330del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259008.2:p.Arg777LeufsTer4",
        "hgvsWellDefined": "ENSP00000259008.2:p.[Arg777_Asp791del;Gln793_Glu795del;Lys797_His804del;Lys806del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250448"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2330,
          "referenceAllele": "G",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000577598.5:c.2330del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464654.1:p.Arg777LeufsTer4",
        "hgvsWellDefined": "ENSP00000464654.1:p.[Arg777_Asp791del;Gln793_Glu795del;Lys797_His804del;Lys806del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384945"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000584322.1:c.313del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388160"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2636,
          "referenceAllele": "G",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NM_032043.2:c.2330del",
        "LRG_300t1:c.2330del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114432.2:p.Arg777LeufsTer4",
        "hgvsWellDefined": "NP_114432.2:p.[Arg777_Asp791del;Gln793_Glu795del;Lys797_His804del;Lys806del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3074,
          "referenceAllele": "G",
          "start": 3073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525332.1:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523634.1:p.Arg797LeufsTer4",
        "hgvsWellDefined": "XP_011523634.1:p.[Arg797_Asp811del;Gln813_Glu815del;Lys817_His824del;Lys826del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092451"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3070,
          "referenceAllele": "G",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525333.1:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523635.1:p.Arg797LeufsTer4",
        "hgvsWellDefined": "XP_011523635.1:p.[Arg797_Asp811del;Gln813_Glu815del;Lys817_His824del;Lys826del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092452"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2979,
          "referenceAllele": "G",
          "start": 2978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525334.1:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523636.1:p.Arg797LeufsTer4",
        "hgvsWellDefined": "XP_011523636.1:p.[Arg797_Asp811del;Gln813_Glu815del;Lys817_His824del;Lys826del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092453"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3014,
          "referenceAllele": "G",
          "start": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525335.1:c.2330del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523637.1:p.Arg777LeufsTer4",
        "hgvsWellDefined": "XP_011523637.1:p.[Arg777_Asp791del;Gln793_Glu795del;Lys797_His804del;Lys806del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092454"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2954,
          "referenceAllele": "G",
          "start": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525336.1:c.2270del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523638.1:p.Arg757LeufsTer4",
        "hgvsWellDefined": "XP_011523638.1:p.[Arg757_Asp771del;Gln773_Glu775del;Lys777_His784del;Lys786del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2873,
          "referenceAllele": "G",
          "start": 2872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525337.1:c.2189del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523639.1:p.Arg730LeufsTer4",
        "hgvsWellDefined": "XP_011523639.1:p.[Arg730_Asp744del;Gln746_Glu748del;Lys750_His757del;Lys759del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092456"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2009,
          "referenceAllele": "G",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525338.1:c.1907del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523640.1:p.Arg636LeufsTer4",
        "hgvsWellDefined": "XP_011523640.1:p.[Arg636_Asp650del;Gln652_Glu654del;Lys656_His663del;Lys665del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092457"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3074,
          "referenceAllele": "G",
          "start": 3073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525339.1:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523641.1:p.Arg797LeufsTer4",
        "hgvsWellDefined": "XP_011523641.1:p.[Arg797_Asp811del;Gln813del;Thr815del;Ala817_Ala826del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092458"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3074,
          "referenceAllele": "G",
          "start": 3073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525340.1:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523642.1:p.Arg797LeufsTer4",
        "hgvsWellDefined": "XP_011523642.1:p.[Arg797_Asp811del;Gln813_Glu815del;Lys817_His824del;Lys826del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 523,
          "endIntronDirection": "-",
          "endIntronOffset": 1118,
          "referenceAllele": "C",
          "start": 523,
          "startIntronDirection": "-",
          "startIntronOffset": 1119
        }
      ],
      "hgvs": [
        "XR_934894.1:n.524-1119del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130182"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3128,
          "referenceAllele": "G",
          "start": 3127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525332.3:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523634.1:p.Arg797LeufsTer4",
        "hgvsWellDefined": "XP_011523634.1:p.[Arg797_Asp811del;Gln813_Glu815del;Lys817_His824del;Lys826del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547837"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3125,
          "referenceAllele": "G",
          "start": 3124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525333.3:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523635.1:p.Arg797LeufsTer4",
        "hgvsWellDefined": "XP_011523635.1:p.[Arg797_Asp811del;Gln813_Glu815del;Lys817_His824del;Lys826del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3784,
          "referenceAllele": "G",
          "start": 3783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525334.2:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523636.1:p.Arg797LeufsTer4",
        "hgvsWellDefined": "XP_011523636.1:p.[Arg797_Asp811del;Gln813_Glu815del;Lys817_His824del;Lys826del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547839"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3068,
          "referenceAllele": "G",
          "start": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525335.3:c.2330del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523637.1:p.Arg777LeufsTer4",
        "hgvsWellDefined": "XP_011523637.1:p.[Arg777_Asp791del;Gln793_Glu795del;Lys797_His804del;Lys806del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547840"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3005,
          "referenceAllele": "G",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525336.2:c.2270del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523638.1:p.Arg757LeufsTer4",
        "hgvsWellDefined": "XP_011523638.1:p.[Arg757_Asp771del;Gln773_Glu775del;Lys777_His784del;Lys786del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547841"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2924,
          "referenceAllele": "G",
          "start": 2923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525337.2:c.2189del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523639.1:p.Arg730LeufsTer4",
        "hgvsWellDefined": "XP_011523639.1:p.[Arg730_Asp744del;Gln746_Glu748del;Lys750_His757del;Lys759del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547842"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2004,
          "referenceAllele": "G",
          "start": 2003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525338.2:c.1907del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523640.1:p.Arg636LeufsTer4",
        "hgvsWellDefined": "XP_011523640.1:p.[Arg636_Asp650del;Gln652_Glu654del;Lys656_His663del;Lys665del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547843"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3257,
          "referenceAllele": "G",
          "start": 3256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525339.3:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523641.1:p.Arg797LeufsTer4",
        "hgvsWellDefined": "XP_011523641.1:p.[Arg797_Asp811del;Gln813del;Thr815del;Ala817_Ala826del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547844"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3253,
          "referenceAllele": "G",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525340.3:c.2390del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523642.1:p.Arg797LeufsTer4",
        "hgvsWellDefined": "XP_011523642.1:p.[Arg797_Asp811del;Gln813_Glu815del;Lys817_His824del;Lys826del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1944,
          "referenceAllele": "G",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025200.1:c.1847del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880689.1:p.Arg616LeufsTer4",
        "hgvsWellDefined": "XP_016880689.1:p.[Arg616_Asp630del;Gln632_Glu634del;Lys636_His643del;Lys645del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575589"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2709,
          "referenceAllele": "G",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025201.1:c.1847del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880690.1:p.Arg616LeufsTer4",
        "hgvsWellDefined": "XP_016880690.1:p.[Arg616_Asp630del;Gln632_Glu634del;Lys636_His643del;Lys645del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575590"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1072,
          "referenceAllele": "G",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025202.1:c.476del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880691.1:p.Arg159LeufsTer4",
        "hgvsWellDefined": "XP_016880691.1:p.[Arg159_Asp173del;Gln175_Glu177del;Lys179_His186del;Lys188del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575591"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025203.1:c.476del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880692.1:p.Arg159LeufsTer4",
        "hgvsWellDefined": "XP_016880692.1:p.[Arg159_Asp173del;Gln175_Glu177del;Lys179_His186del;Lys188del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575592"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2605,
          "referenceAllele": "G",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NM_032043.3:c.2330del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114432.2:p.Arg777LeufsTer4",
        "hgvsWellDefined": "NP_114432.2:p.[Arg777_Asp791del;Gln793_Glu795del;Lys797_His804del;Lys806del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259008.7:c.2330del"
          },
          "RefSeq": {
            "hgvs": "NM_032043.3:c.2330del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259008.2:p.Arg777LeufsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_114432.2:p.Arg777LeufsTer4"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}