{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA003665",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833SerfsTer7)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70264[alleleid]",
        "alleleId": 70264,
        "preferredName": "NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/55597",
        "RCV": [
          "RCV000112681",
          "RCV000582609",
          "RCV000657203"
        ],
        "variationId": 55597
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41197781_41197791delinsT?assembly=hg19",
        "id": "chr17:g.41197781_41197791delinsT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43045764_43045774delinsT?assembly=hg38",
        "id": "chr17:g.43045764_43045774delinsT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/273902775",
        "rs": 273902775
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 43045774,
          "referenceAllele": "CTCGGGTCACC",
          "start": 43045763
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43045764_43045774delinsT",
        "CM000679.2:g.43045764_43045774delinsT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41197791,
          "referenceAllele": "CTCGGGTCACC",
          "start": 41197780
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41197781_41197791delinsT",
        "CM000679.1:g.41197781_41197791delinsT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 38451317,
          "referenceAllele": "CTCGGGTCACC",
          "start": 38451306
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38451307_38451317delinsT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 172220,
          "referenceAllele": "GGTGACCCGAG",
          "start": 172209
        }
      ],
      "hgvs": [
        "NG_005905.2:g.172210_172220delinsA",
        "LRG_292:g.172210_172220delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5622,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5493_5503delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Val1832SerfsTer7",
        "hgvsWellDefined": "ENSP00000417241.2:p.[Val1832_Asp1839del;Val1841_Gln1845delinsGly;Gln1847_Asp1850delinsTrp;Tyr1852_Tyr1862delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5687,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5496_5506delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Val1833SerfsTer7",
        "hgvsWellDefined": "ENSP00000419274.2:p.[Val1833_Asp1840del;Val1842_Gln1846delinsGly;Gln1848_Asp1851delinsTrp;Tyr1853_Tyr1863delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5493,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.5370_5380delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Val1791SerfsTer7",
        "hgvsWellDefined": "ENSP00000420201.2:p.[Val1791_Asp1798del;Val1800_Gln1804delinsGly;Gln1806_Asp1809delinsTrp;Tyr1811_Tyr1821delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5609,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.5490_5500delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Val1831SerfsTer7",
        "hgvsWellDefined": "ENSP00000417554.2:p.[Val1831_Asp1838del;Val1840_Gln1844delinsGly;Gln1846_Asp1849delinsTrp;Tyr1851_Tyr1861delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5541,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.5418_5428delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Val1807SerfsTer7",
        "hgvsWellDefined": "ENSP00000419988.2:p.[Val1807_Asp1814del;Val1816_Gln1820delinsGly;Gln1822_Asp1825delinsTrp;Tyr1827_Tyr1837delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2296,
          "referenceAllele": "GGTGACCCGAG",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.2184_2194delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Val729SerfsTer7",
        "hgvsWellDefined": "ENSP00000420412.2:p.[Val729_Asp736del;Val738_Gln742delinsGly;Gln744_Asp747delinsTrp;Tyr749_Tyr759delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5587,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.5418_5428delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Val1807SerfsTer7",
        "hgvsWellDefined": "ENSP00000420781.2:p.[Val1807_Asp1814del;Val1816_Gln1820delinsGly;Gln1822_Asp1825delinsTrp;Tyr1827_Tyr1837delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2288,
          "referenceAllele": "GGTGACCCGAG",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.2046_2056delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Val683SerfsTer7",
        "hgvsWellDefined": "ENSP00000418819.2:p.[Val683_Asp690del;Val692_Gln696delinsGly;Gln698_Asp701delinsTrp;Tyr703_Tyr713delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5699,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5496_5506delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Val1833SerfsTer7",
        "hgvsWellDefined": "ENSP00000419103.2:p.[Val1833_Asp1840del;Val1842_Gln1846delinsGly;Gln1848_Asp1851delinsTrp;Tyr1853_Tyr1863delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4866,
          "referenceAllele": "GGTGACCCGAG",
          "start": 4855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4608_4618delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Val1537SerfsTer7",
        "hgvsWellDefined": "ENSP00000418986.2:p.[Val1537_Asp1544del;Val1546_Gln1550delinsGly;Gln1552_Asp1555delinsTrp;Tyr1557_Tyr1567delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6153,
          "referenceAllele": "GGTGACCCGAG",
          "start": 6142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5496_5506delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Val1833SerfsTer7",
        "hgvsWellDefined": "ENSP00000478114.2:p.[Val1833_Asp1840del;Val1842_Gln1846delinsGly;Gln1848_Asp1851delinsTrp;Tyr1853_Tyr1863delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5522,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.5373_5383delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Val1792SerfsTer7",
        "hgvsWellDefined": "ENSP00000489431.2:p.[Val1792_Asp1799del;Val1801_Gln1805delinsGly;Gln1807_Asp1810delinsTrp;Tyr1812_Tyr1822delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5685,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5562_5572delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Val1855SerfsTer7",
        "hgvsWellDefined": "ENSP00000496570.2:p.[Val1855_Asp1862del;Val1864_Gln1868delinsGly;Gln1870_Asp1873delinsTrp;Tyr1875_Tyr1885delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2461,
          "referenceAllele": "GGTGACCCGAG",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.2046_2056delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Val683SerfsTer7",
        "hgvsWellDefined": "ENSP00000494614.2:p.[Val683_Asp690del;Val692_Gln696delinsGly;Gln698_Asp701delinsTrp;Tyr703_Tyr713delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5851,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.5355_5365delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Val1786SerfsTer7",
        "hgvsWellDefined": "ENSP00000498906.2:p.[Val1786_Asp1793del;Val1795_Gln1799delinsGly;Gln1801_Asp1804delinsTrp;Tyr1806_Tyr1816delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2160,
          "referenceAllele": "GGTGACCCGAG",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.2058_2068delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Val687SerfsTer7",
        "hgvsWellDefined": "ENSP00000419481.2:p.[Val687_Asp694del;Val696_Gln700delinsGly;Gln702_Asp705delinsTrp;Tyr707_Tyr717delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1389,
          "referenceAllele": "GGTGACCCGAG",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700081.1:n.1379_1389delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 870,
          "referenceAllele": "GGTGACCCGAG",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700082.1:n.860_870delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5619,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5496_5506delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Val1833SerfsTer7",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Val1833_Asp1840del;Val1842_Gln1846delinsGly;Gln1848_Asp1851delinsTrp;Tyr1853_Tyr1863delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5496_5506delinsA"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5496_5506delinsA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Val1833SerfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Val1833SerfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5801,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5559_5569delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Val1854SerfsTer7",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Val1854_Asp1861del;Val1863_Gln1867delinsGly;Gln1869_Asp1872delinsTrp;Tyr1874_Tyr1884delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1893,
          "referenceAllele": "GGTGACCCGAG",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1883_1893delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2199,
          "referenceAllele": "GGTGACCCGAG",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.2070_2080delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Val691SerfsTer7",
        "hgvsWellDefined": "ENSP00000312236.5:p.[Val691_Asp698del;Val700_Gln704delinsGly;Gln706_Asp709delinsTrp;Tyr711_Tyr721delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5625,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5496_5506delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Val1833SerfsTer7",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Val1833_Asp1840del;Val1842_Gln1846delinsGly;Gln1848_Asp1851delinsTrp;Tyr1853_Tyr1863delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5607,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*5279_*5289delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*5279_*5289delinsA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2314,
          "referenceAllele": "GGTGACCCGAG",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.*10_*20delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.*10_*20delinsA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5801,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5559_5569delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Val1854SerfsTer7",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Val1854_Asp1861del;Val1863_Gln1867delinsGly;Gln1869_Asp1872delinsTrp;Tyr1874_Tyr1884delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2293,
          "referenceAllele": "GGTGACCCGAG",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.2184_2194delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Val729SerfsTer7",
        "hgvsWellDefined": "ENSP00000420705.2:p.[Val729_Asp736del;Val738_Gln742delinsGly;Gln744_Asp747delinsTrp;Tyr749_Tyr759delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5597,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.5355_5365delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Val1786SerfsTer7",
        "hgvsWellDefined": "ENSP00000418775.1:p.[Val1786_Asp1793del;Val1795_Gln1799delinsGly;Gln1801_Asp1804delinsTrp;Tyr1806_Tyr1816delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "referenceAllele": "GGTGACCCGAG",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.426_436delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:p.Val143SerfsTer7",
        "hgvsWellDefined": "ENSP00000465818.1:p.[Val143_Asp150del;Val152_Gln156delinsGly;Gln158_Asp161delinsTrp;Tyr163_Tyr173delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1081,
          "referenceAllele": "GGTGACCCGAG",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.969_979delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Val324SerfsTer7",
        "hgvsWellDefined": "ENSP00000467329.1:p.[Val324_Asp331del;Val333_Gln337delinsGly;Gln339_Asp342delinsTrp;Tyr344_Tyr354delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "GGTGACCCGAG",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.195_205delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:p.Val66SerfsTer7",
        "hgvsWellDefined": "ENSP00000465347.1:p.[Val66_Asp73del;Val75_Gln79delinsGly;Gln81_Asp84delinsTrp;Tyr86_Tyr96delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5738,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5496_5506delinsA",
        "LRG_292t1:c.5496_5506delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Val1833SerfsTer7",
        "hgvsWellDefined": "NP_009225.1:p.[Val1833_Asp1840del;Val1842_Gln1846delinsGly;Gln1848_Asp1851delinsTrp;Tyr1853_Tyr1863delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5646,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.5355_5365delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Val1786SerfsTer7",
        "hgvsWellDefined": "NP_009228.2:p.[Val1786_Asp1793del;Val1795_Gln1799delinsGly;Gln1801_Asp1804delinsTrp;Tyr1806_Tyr1816delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2213,
          "referenceAllele": "GGTGACCCGAG",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.2184_2194delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Val729SerfsTer7",
        "hgvsWellDefined": "NP_009229.2:p.[Val729_Asp736del;Val738_Gln742delinsGly;Gln744_Asp747delinsTrp;Tyr749_Tyr759delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2314,
          "referenceAllele": "GGTGACCCGAG",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.*10_*20delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.*10_*20delinsA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5801,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5559_5569delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Val1854SerfsTer7",
        "hgvsWellDefined": "NP_009231.2:p.[Val1854_Asp1861del;Val1863_Gln1867delinsGly;Gln1869_Asp1872delinsTrp;Tyr1874_Tyr1884delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5642,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5632_5642delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5619,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5496_5506delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Val1833SerfsTer7",
        "hgvsWellDefined": "NP_009225.1:p.[Val1833_Asp1840del;Val1842_Gln1846delinsGly;Gln1848_Asp1851delinsTrp;Tyr1853_Tyr1863delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5496_5506delinsA"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5496_5506delinsA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Val1833SerfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Val1833SerfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5559,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.5355_5365delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Val1786SerfsTer7",
        "hgvsWellDefined": "NP_009228.2:p.[Val1786_Asp1793del;Val1795_Gln1799delinsGly;Gln1801_Asp1804delinsTrp;Tyr1806_Tyr1816delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2227,
          "referenceAllele": "GGTGACCCGAG",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.*10_*20delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.*10_*20delinsA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5682,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5559_5569delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Val1854SerfsTer7",
        "hgvsWellDefined": "NP_009231.2:p.[Val1854_Asp1861del;Val1863_Gln1867delinsGly;Gln1869_Asp1872delinsTrp;Tyr1874_Tyr1884delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5683,
          "referenceAllele": "GGTGACCCGAG",
          "start": 5672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5673_5683delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}