{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16615824",
  "communityStandardTitle": [
    "NM_032043.3(BRIP1):c.632del (p.Pro211LeufsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402809[alleleid]",
        "alleleId": 402809,
        "preferredName": "NM_032043.3(BRIP1):c.632del (p.Pro211fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/407873",
        "RCV": [
          "RCV000463454"
        ],
        "variationId": 407873
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.59886114del?assembly=hg19",
        "id": "chr17:g.59886114del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.61808753del?assembly=hg38",
        "id": "chr17:g.61808753del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060501779",
        "rs": 1060501779
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-61808752-AG-A?dataset=gnomad_r4",
        "id": "17-61808752-AG-A",
        "variant": "17:61808752 AG / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 61808757,
          "referenceAllele": "G",
          "start": 61808756
        }
      ],
      "hgvs": [
        "NC_000017.11:g.61808757del",
        "CM000679.2:g.61808757del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 59886118,
          "referenceAllele": "G",
          "start": 59886117
        }
      ],
      "hgvs": [
        "NC_000017.10:g.59886118del",
        "CM000679.1:g.59886118del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 57240900,
          "referenceAllele": "G",
          "start": 57240899
        }
      ],
      "hgvs": [
        "NC_000017.9:g.57240900del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59807,
          "referenceAllele": "C",
          "start": 59806
        }
      ],
      "hgvs": [
        "NG_007409.2:g.59807del",
        "LRG_300:g.59807del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000572"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000579028.2:c.125del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463827.2:p.Pro42LeufsTer?",
        "hgvsWellDefined": "ENSP00000463827.2:p.[Pro42_Thr69delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys71Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826199"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 706,
          "referenceAllele": "C",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000584322.2:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463272.2:p.Pro211LeufsTer?",
        "hgvsWellDefined": "ENSP00000463272.2:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826229"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682066.1:c.125del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507191.1:p.Pro42LeufsTer?",
        "hgvsWellDefined": "ENSP00000507191.1:p.[Pro42_Thr69delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys71Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827064"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682453.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506943.1:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827443"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682477.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507075.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "ENSP00000507075.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827467"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2373,
          "referenceAllele": "C",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682589.1:n.2373del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827579"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682611.1:c.125del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508326.1:p.Pro42LeufsTer?",
        "hgvsWellDefined": "ENSP00000508326.1:p.[Pro42_Thr69delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys71Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827600"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682755.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507660.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "ENSP00000507660.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000682989.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507786.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "ENSP00000507786.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827976"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 954,
          "referenceAllele": "C",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683039.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508303.1:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828026"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 885,
          "referenceAllele": "C",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683235.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507646.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "ENSP00000507646.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828217"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683381.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508184.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "ENSP00000508184.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828360"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000683692.1:c.125del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507964.1:p.Pro42LeufsTer?",
        "hgvsWellDefined": "ENSP00000507964.1:p.[Pro42_Thr69delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys71Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828663"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000684584.1:c.125del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508044.1:p.Pro42LeufsTer?",
        "hgvsWellDefined": "ENSP00000508044.1:p.[Pro42_Thr69delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys71Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829536"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000259008.7:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259008.2:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741952",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259008.7:c.632del"
          },
          "RefSeq": {
            "hgvs": "NM_032043.3:c.632del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259008.2:p.Pro211LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_114432.2:p.Pro211LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000259008.6:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259008.2:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250448"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000577598.5:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464654.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "ENSP00000464654.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384945"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NM_032043.2:c.632del",
        "LRG_300t1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114432.2:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525332.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523634.1:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092451"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1312,
          "referenceAllele": "C",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525333.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523635.1:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092452"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1221,
          "referenceAllele": "C",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525334.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523636.1:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092453"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525335.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523637.1:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092454"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525336.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523638.1:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525337.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523639.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "XP_011523639.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092456"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525338.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523640.1:p.Pro50LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092457"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525339.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523641.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "XP_011523641.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092458"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525340.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523642.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "XP_011523642.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525341.1:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523643.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "XP_011523643.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092460"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525332.3:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523634.1:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547837"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525333.3:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523635.1:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2026,
          "referenceAllele": "C",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525334.2:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523636.1:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547839"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525335.3:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523637.1:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547840"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525336.2:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523638.1:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547841"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525337.2:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523639.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "XP_011523639.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547842"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525338.2:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523640.1:p.Pro50LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547843"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1499,
          "referenceAllele": "C",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525339.3:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523641.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "XP_011523641.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547844"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1495,
          "referenceAllele": "C",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525340.3:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523642.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "XP_011523642.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1369,
          "referenceAllele": "C",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525341.3:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523643.1:p.Pro211LeufsTer?",
        "hgvsWellDefined": "XP_011523643.1:p.[Pro211_Thr238delinsLeuAlaThrValLeuGlyAlaValValLeuLeuAsnLysGluThrValLysSerHisArgIleProLeuArgArgIleIleGln;Lys240Asn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547846"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025200.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880689.1:p.Pro50LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575589"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 951,
          "referenceAllele": "C",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025201.1:c.89del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880690.1:p.Pro30LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575590"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NM_032043.3:c.632del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114432.2:p.Pro211LeufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259008.7:c.632del"
          },
          "RefSeq": {
            "hgvs": "NM_032043.3:c.632del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259008.2:p.Pro211LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_114432.2:p.Pro211LeufsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}