{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA003322",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5177_5178del (p.Arg1726LysfsTer5)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70111[alleleid]",
        "alleleId": 70111,
        "preferredName": "NM_007294.4(BRCA1):c.5177_5178del (p.Arg1726fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/55444",
        "RCV": [
          "RCV000112546",
          "RCV001271030"
        ],
        "variationId": 55444
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41215365_41215366del?assembly=hg19",
        "id": "chr17:g.41215365_41215366del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43063348_43063349del?assembly=hg38",
        "id": "chr17:g.43063348_43063349del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357730",
        "rs": 80357730
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 43063350,
          "referenceAllele": "CT",
          "start": 43063348
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43063349_43063350del",
        "CM000679.2:g.43063349_43063350del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 41215367,
          "referenceAllele": "CT",
          "start": 41215365
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41215366_41215367del",
        "CM000679.1:g.41215366_41215367del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 38468893,
          "referenceAllele": "CT",
          "start": 38468891
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38468892_38468893del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 154636,
          "referenceAllele": "AG",
          "start": 154634
        }
      ],
      "hgvs": [
        "NG_005905.2:g.154635_154636del",
        "LRG_292:g.154635_154636del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5294,
          "referenceAllele": "AG",
          "start": 5292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5174_5175del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Arg1725LysfsTer5",
        "hgvsWellDefined": "ENSP00000417241.2:p.[Arg1725del;Met1727_Leu1728del;Glu1730_Arg1750del;Arg1752del;Ser1754_Gln1755del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5359,
          "referenceAllele": "AG",
          "start": 5357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5177_5178del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Arg1726LysfsTer5",
        "hgvsWellDefined": "ENSP00000419274.2:p.[Arg1726del;Met1728_Leu1729del;Glu1731_Arg1751del;Arg1753del;Ser1755_Gln1756del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5165,
          "referenceAllele": "AG",
          "start": 5163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.5051_5052del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Arg1684LysfsTer5",
        "hgvsWellDefined": "ENSP00000420201.2:p.[Arg1684del;Met1686_Leu1687del;Glu1689_Arg1709del;Arg1711del;Ser1713_Gln1714del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5281,
          "referenceAllele": "AG",
          "start": 5279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.5171_5172del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Arg1724LysfsTer5",
        "hgvsWellDefined": "ENSP00000417554.2:p.[Arg1724del;Met1726_Leu1727del;Glu1729_Arg1749del;Arg1751del;Ser1753_Gln1754del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5213,
          "referenceAllele": "AG",
          "start": 5211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.5099_5100del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Arg1700LysfsTer5",
        "hgvsWellDefined": "ENSP00000419988.2:p.[Arg1700del;Met1702_Leu1703del;Glu1705_Arg1725del;Arg1727del;Ser1729_Gln1730del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1968,
          "referenceAllele": "AG",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.1865_1866del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Arg622LysfsTer5",
        "hgvsWellDefined": "ENSP00000420412.2:p.[Arg622del;Met624_Leu625del;Glu627_Arg647del;Arg649del;Ser651_Gln652del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5259,
          "referenceAllele": "AG",
          "start": 5257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.5099_5100del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Arg1700LysfsTer5",
        "hgvsWellDefined": "ENSP00000420781.2:p.[Arg1700del;Met1702_Leu1703del;Glu1705_Arg1725del;Arg1727del;Ser1729_Gln1730del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1960,
          "referenceAllele": "AG",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.1727_1728del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Arg576LysfsTer5",
        "hgvsWellDefined": "ENSP00000418819.2:p.[Arg576del;Met578_Leu579del;Glu581_Arg601del;Arg603del;Ser605_Gln606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5371,
          "referenceAllele": "AG",
          "start": 5369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5177_5178del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Arg1726LysfsTer5",
        "hgvsWellDefined": "ENSP00000419103.2:p.[Arg1726del;Met1728_Leu1729del;Glu1731_Arg1751del;Arg1753del;Ser1755_Gln1756del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4538,
          "referenceAllele": "AG",
          "start": 4536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4289_4290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Arg1430LysfsTer5",
        "hgvsWellDefined": "ENSP00000418986.2:p.[Arg1430del;Met1432_Leu1433del;Glu1435_Arg1455del;Arg1457del;Ser1459_Gln1460del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5825,
          "referenceAllele": "AG",
          "start": 5823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5177_5178del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Arg1726LysfsTer5",
        "hgvsWellDefined": "ENSP00000478114.2:p.[Arg1726del;Met1728_Leu1729del;Glu1731_Arg1751del;Arg1753del;Ser1755_Gln1756del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5194,
          "referenceAllele": "AG",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.5054_5055del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Arg1685LysfsTer5",
        "hgvsWellDefined": "ENSP00000489431.2:p.[Arg1685del;Met1687_Leu1688del;Glu1690_Arg1710del;Arg1712del;Ser1714_Gln1715del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5357,
          "referenceAllele": "AG",
          "start": 5355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5243_5244del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Arg1748LysfsTer5",
        "hgvsWellDefined": "ENSP00000496570.2:p.[Arg1748del;Met1750_Leu1751del;Glu1753_Arg1773del;Arg1775del;Ser1777_Gln1778del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2133,
          "referenceAllele": "AG",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.1727_1728del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Arg576LysfsTer5",
        "hgvsWellDefined": "ENSP00000494614.2:p.[Arg576del;Met578_Leu579del;Glu581_Arg601del;Arg603del;Ser605_Gln606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5523,
          "referenceAllele": "AG",
          "start": 5521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.5036_5037del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Arg1679LysfsTer5",
        "hgvsWellDefined": "ENSP00000498906.2:p.[Arg1679del;Met1681_Leu1682del;Glu1684_Arg1704del;Arg1706del;Ser1708_Gln1709del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1832,
          "referenceAllele": "AG",
          "start": 1830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.1739_1740del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Arg580LysfsTer5",
        "hgvsWellDefined": "ENSP00000419481.2:p.[Arg580del;Met582_Leu583del;Glu585_Arg605del;Arg607del;Ser609_Gln610del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5291,
          "referenceAllele": "AG",
          "start": 5289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5177_5178del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Arg1726LysfsTer5",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Arg1726del;Met1728_Leu1729del;Glu1731_Arg1751del;Arg1753del;Ser1755_Gln1756del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5177_5178del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5177_5178del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Arg1726LysfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Arg1726LysfsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5473,
          "referenceAllele": "AG",
          "start": 5471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5240_5241del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Arg1747LysfsTer5",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Arg1747del;Met1749_Leu1750del;Glu1752_Arg1772del;Arg1774del;Ser1776_Gln1777del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1565,
          "referenceAllele": "AG",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1564_1565del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1871,
          "referenceAllele": "AG",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.1751_1752del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Arg584LysfsTer5",
        "hgvsWellDefined": "ENSP00000312236.5:p.[Arg584del;Met586_Leu587del;Glu589_Arg609del;Arg611del;Ser613_Gln614del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5297,
          "referenceAllele": "AG",
          "start": 5295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5177_5178del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Arg1726LysfsTer5",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Arg1726del;Met1728_Leu1729del;Glu1731_Arg1751del;Arg1753del;Ser1755_Gln1756del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5279,
          "referenceAllele": "AG",
          "start": 5277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*4960_*4961del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*4960_*4961del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2060,
          "referenceAllele": "AG",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.1865_1866del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Arg622LysfsTer5",
        "hgvsWellDefined": "ENSP00000417148.1:p.[Arg622del;Met624_Leu625del;Glu627_Arg647del;Arg649del;Ser651_Gln652del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5473,
          "referenceAllele": "AG",
          "start": 5471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5240_5241del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Arg1747LysfsTer5",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Arg1747del;Met1749_Leu1750del;Glu1752_Arg1772del;Arg1774del;Ser1776_Gln1777del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1968,
          "referenceAllele": "AG",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.1865_1866del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:p.Arg622LysfsTer?",
        "hgvsWellDefined": "ENSP00000420412.1:p.Arg622del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1491,
          "referenceAllele": "AG",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.1490_1491del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:p.Arg497LysfsTer?",
        "hgvsWellDefined": "ENSP00000419481.1:p.Arg497del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1965,
          "referenceAllele": "AG",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.1865_1866del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Arg622LysfsTer5",
        "hgvsWellDefined": "ENSP00000420705.2:p.[Arg622del;Met624_Leu625del;Glu627_Arg647del;Arg649del;Ser651_Gln652del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5269,
          "referenceAllele": "AG",
          "start": 5267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.5036_5037del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Arg1679LysfsTer5",
        "hgvsWellDefined": "ENSP00000418775.1:p.[Arg1679del;Met1681_Leu1682del;Glu1684_Arg1704del;Arg1706del;Ser1708_Gln1709del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 252,
          "referenceAllele": "AG",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.107_108del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:p.Arg36LysfsTer5",
        "hgvsWellDefined": "ENSP00000465818.1:p.[Arg36del;Met38_Leu39del;Glu41_Arg61del;Arg63del;Ser65_Gln66del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 753,
          "referenceAllele": "AG",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.650_651del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Arg217LysfsTer5",
        "hgvsWellDefined": "ENSP00000467329.1:p.[Arg217del;Met219_Leu220del;Glu222_Arg242del;Arg244del;Ser246_Gln247del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 13157,
          "referenceAllele": "AG",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 13159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-98-13159_-98-13158del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-98-13159_-98-13158del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5410,
          "referenceAllele": "AG",
          "start": 5408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5177_5178del",
        "LRG_292t1:c.5177_5178del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Arg1726LysfsTer5",
        "hgvsWellDefined": "NP_009225.1:p.[Arg1726del;Met1728_Leu1729del;Glu1731_Arg1751del;Arg1753del;Ser1755_Gln1756del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5318,
          "referenceAllele": "AG",
          "start": 5316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.5036_5037del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Arg1679LysfsTer5",
        "hgvsWellDefined": "NP_009228.2:p.[Arg1679del;Met1681_Leu1682del;Glu1684_Arg1704del;Arg1706del;Ser1708_Gln1709del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1885,
          "referenceAllele": "AG",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.1865_1866del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Arg622LysfsTer5",
        "hgvsWellDefined": "NP_009229.2:p.[Arg622del;Met624_Leu625del;Glu627_Arg647del;Arg649del;Ser651_Gln652del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2060,
          "referenceAllele": "AG",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.1865_1866del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Arg622LysfsTer5",
        "hgvsWellDefined": "NP_009230.2:p.[Arg622del;Met624_Leu625del;Glu627_Arg647del;Arg649del;Ser651_Gln652del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5473,
          "referenceAllele": "AG",
          "start": 5471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5240_5241del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Arg1747LysfsTer5",
        "hgvsWellDefined": "NP_009231.2:p.[Arg1747del;Met1749_Leu1750del;Glu1752_Arg1772del;Arg1774del;Ser1776_Gln1777del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5314,
          "referenceAllele": "AG",
          "start": 5312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5313_5314del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5291,
          "referenceAllele": "AG",
          "start": 5289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5177_5178del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Arg1726LysfsTer5",
        "hgvsWellDefined": "NP_009225.1:p.[Arg1726del;Met1728_Leu1729del;Glu1731_Arg1751del;Arg1753del;Ser1755_Gln1756del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5177_5178del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5177_5178del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Arg1726LysfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Arg1726LysfsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5231,
          "referenceAllele": "AG",
          "start": 5229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.5036_5037del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Arg1679LysfsTer5",
        "hgvsWellDefined": "NP_009228.2:p.[Arg1679del;Met1681_Leu1682del;Glu1684_Arg1704del;Arg1706del;Ser1708_Gln1709del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1973,
          "referenceAllele": "AG",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.1865_1866del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Arg622LysfsTer5",
        "hgvsWellDefined": "NP_009230.2:p.[Arg622del;Met624_Leu625del;Glu627_Arg647del;Arg649del;Ser651_Gln652del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5354,
          "referenceAllele": "AG",
          "start": 5352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5240_5241del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Arg1747LysfsTer5",
        "hgvsWellDefined": "NP_009231.2:p.[Arg1747del;Met1749_Leu1750del;Glu1752_Arg1772del;Arg1774del;Ser1776_Gln1777del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5355,
          "referenceAllele": "AG",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5354_5355del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}