{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139665559",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5290del (p.Leu1764Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=937939[alleleid]",
        "alleleId": 937939,
        "preferredName": "NM_007294.4(BRCA1):c.5290del (p.Gly1763_Leu1764insTer)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/934498",
        "RCV": [
          "RCV001202901",
          "RCV004033553"
        ],
        "variationId": 934498
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2051210433",
        "rs": 2051210433
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 43051105,
          "referenceAllele": "G",
          "start": 43051104
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43051105del",
        "CM000679.2:g.43051105del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 41203122,
          "referenceAllele": "G",
          "start": 41203121
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41203122del",
        "CM000679.1:g.41203122del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 38456648,
          "referenceAllele": "G",
          "start": 38456647
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38456648del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 166879,
          "referenceAllele": "C",
          "start": 166878
        }
      ],
      "hgvs": [
        "NG_005905.2:g.166879del",
        "LRG_292:g.166879del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5406,
          "referenceAllele": "C",
          "start": 5405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5287del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Leu1763Ter",
        "hgvsWellDefined": "ENSP00000417241.2:p.Leu1763_Lys1792del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5471,
          "referenceAllele": "C",
          "start": 5470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Leu1764Ter",
        "hgvsWellDefined": "ENSP00000419274.2:p.Leu1764_Lys1793del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5277,
          "referenceAllele": "C",
          "start": 5276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.5164del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Leu1722Ter",
        "hgvsWellDefined": "ENSP00000420201.2:p.Leu1722_Lys1751del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5393,
          "referenceAllele": "C",
          "start": 5392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.5284del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Leu1762Ter",
        "hgvsWellDefined": "ENSP00000417554.2:p.Leu1762_Lys1791del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5325,
          "referenceAllele": "C",
          "start": 5324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.5212del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Leu1738Ter",
        "hgvsWellDefined": "ENSP00000419988.2:p.Leu1738_Lys1767del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2080,
          "referenceAllele": "C",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.1978del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Leu660Ter",
        "hgvsWellDefined": "ENSP00000420412.2:p.Leu660_Lys689del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5371,
          "referenceAllele": "C",
          "start": 5370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.5212del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Leu1738Ter",
        "hgvsWellDefined": "ENSP00000420781.2:p.Leu1738_Lys1767del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2072,
          "referenceAllele": "C",
          "start": 2071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.1840del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Leu614Ter",
        "hgvsWellDefined": "ENSP00000418819.2:p.Leu614_Lys643del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5483,
          "referenceAllele": "C",
          "start": 5482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Leu1764Ter",
        "hgvsWellDefined": "ENSP00000419103.2:p.Leu1764_Lys1793del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4650,
          "referenceAllele": "C",
          "start": 4649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4402del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Leu1468Ter",
        "hgvsWellDefined": "ENSP00000418986.2:p.Leu1468_Lys1497del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5937,
          "referenceAllele": "C",
          "start": 5936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Leu1764Ter",
        "hgvsWellDefined": "ENSP00000478114.2:p.Leu1764_Lys1793del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5306,
          "referenceAllele": "C",
          "start": 5305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.5167del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Leu1723Ter",
        "hgvsWellDefined": "ENSP00000489431.2:p.Leu1723_Lys1752del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5469,
          "referenceAllele": "C",
          "start": 5468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5356del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Leu1786Ter",
        "hgvsWellDefined": "ENSP00000496570.2:p.Leu1786_Lys1815del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2245,
          "referenceAllele": "C",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.1840del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Leu614Ter",
        "hgvsWellDefined": "ENSP00000494614.2:p.Leu614_Lys643del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5635,
          "referenceAllele": "C",
          "start": 5634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.5149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Leu1717Ter",
        "hgvsWellDefined": "ENSP00000498906.2:p.Leu1717_Lys1746del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1944,
          "referenceAllele": "C",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.1852del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Leu618Ter",
        "hgvsWellDefined": "ENSP00000419481.2:p.Leu618_Lys647del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5403,
          "referenceAllele": "C",
          "start": 5402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Leu1764Ter",
        "hgvsWellDefined": "ENSP00000350283.3:p.Leu1764_Lys1793del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5290del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5290del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Leu1764Ter"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Leu1764Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5585,
          "referenceAllele": "C",
          "start": 5584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5353del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Leu1785Ter",
        "hgvsWellDefined": "ENSP00000418960.2:p.Leu1785_Lys1814del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1677,
          "referenceAllele": "C",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1677del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1983,
          "referenceAllele": "C",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.1864del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Leu622Ter",
        "hgvsWellDefined": "ENSP00000312236.5:p.Leu622_Lys651del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5409,
          "referenceAllele": "C",
          "start": 5408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Leu1764Ter",
        "hgvsWellDefined": "ENSP00000350283.3:p.Leu1764_Lys1793del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5391,
          "referenceAllele": "C",
          "start": 5390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*5073del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*5073del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2172,
          "referenceAllele": "C",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.1978del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Leu660Ter",
        "hgvsWellDefined": "ENSP00000417148.1:p.Leu660_Gly689del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5585,
          "referenceAllele": "C",
          "start": 5584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5353del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Leu1785Ter",
        "hgvsWellDefined": "ENSP00000418960.2:p.Leu1785_Lys1814del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2077,
          "referenceAllele": "C",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.1978del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Leu660Ter",
        "hgvsWellDefined": "ENSP00000420705.2:p.Leu660_Lys689del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5381,
          "referenceAllele": "C",
          "start": 5380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.5149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Leu1717Ter",
        "hgvsWellDefined": "ENSP00000418775.1:p.Leu1717_Lys1746del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.220del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:p.Leu74Ter",
        "hgvsWellDefined": "ENSP00000465818.1:p.Leu74_Lys103del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.763del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Leu255Ter",
        "hgvsWellDefined": "ENSP00000467329.1:p.Leu255_Lys284del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 914,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-98-915del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-98-915del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829685304",
      "coordinates": [
        {
          "allele": "",
          "end": 5522,
          "referenceAllele": "C",
          "start": 5521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5290del",
        "LRG_292t1:c.5290del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Leu1764Ter",
        "hgvsWellDefined": "NP_009225.1:p.Leu1764_Lys1793del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829697608",
      "coordinates": [
        {
          "allele": "",
          "end": 5430,
          "referenceAllele": "C",
          "start": 5429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.5149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Leu1717Ter",
        "hgvsWellDefined": "NP_009228.2:p.Leu1717_Lys1746del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1997,
          "referenceAllele": "C",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.1978del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Leu660Ter",
        "hgvsWellDefined": "NP_009229.2:p.Leu660_Lys689del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994467",
      "coordinates": [
        {
          "allele": "",
          "end": 2172,
          "referenceAllele": "C",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.1978del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Leu660Ter",
        "hgvsWellDefined": "NP_009230.2:p.Leu660_Gly689del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829709749",
      "coordinates": [
        {
          "allele": "",
          "end": 5585,
          "referenceAllele": "C",
          "start": 5584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5353del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Leu1785Ter",
        "hgvsWellDefined": "NP_009231.2:p.Leu1785_Lys1814del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5426,
          "referenceAllele": "C",
          "start": 5425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5426del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829685304",
      "coordinates": [
        {
          "allele": "",
          "end": 5403,
          "referenceAllele": "C",
          "start": 5402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5290del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Leu1764Ter",
        "hgvsWellDefined": "NP_009225.1:p.Leu1764_Lys1793del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5290del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5290del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Leu1764Ter"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Leu1764Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829697608",
      "coordinates": [
        {
          "allele": "",
          "end": 5343,
          "referenceAllele": "C",
          "start": 5342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.5149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Leu1717Ter",
        "hgvsWellDefined": "NP_009228.2:p.Leu1717_Lys1746del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994467",
      "coordinates": [
        {
          "allele": "",
          "end": 2085,
          "referenceAllele": "C",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.1978del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Leu660Ter",
        "hgvsWellDefined": "NP_009230.2:p.Leu660_Gly689del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829709749",
      "coordinates": [
        {
          "allele": "",
          "end": 5466,
          "referenceAllele": "C",
          "start": 5465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5353del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Leu1785Ter",
        "hgvsWellDefined": "NP_009231.2:p.Leu1785_Lys1814del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5467,
          "referenceAllele": "C",
          "start": 5466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5467del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}