{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658824538",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.1102_1103insC (p.Glu368AlafsTer10)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=538892[alleleid]",
        "alleleId": 538892,
        "preferredName": "NM_007294.4(BRCA1):c.1102_1103insC (p.Glu368fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/548183",
        "RCV": [
          "RCV000660971"
        ],
        "variationId": 548183
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41246445_41246446insG?assembly=hg19",
        "id": "chr17:g.41246445_41246446insG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43094428_43094429insG?assembly=hg38",
        "id": "chr17:g.43094428_43094429insG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555592500",
        "rs": 1555592500
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 43094428,
          "referenceAllele": "",
          "start": 43094428
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43094428_43094429insG",
        "CM000679.2:g.43094428_43094429insG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41246445,
          "referenceAllele": "",
          "start": 41246445
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41246445_41246446insG",
        "CM000679.1:g.41246445_41246446insG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38499971,
          "referenceAllele": "",
          "start": 38499971
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38499971_38499972insG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 123555,
          "referenceAllele": "",
          "start": 123555
        }
      ],
      "hgvs": [
        "NG_005905.2:g.123555_123556insC",
        "LRG_292:g.123555_123556insC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.1166_1167insC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1221,
          "referenceAllele": "",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1283,
          "referenceAllele": "",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1089,
          "referenceAllele": "",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.976_977insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Glu326AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1208,
          "referenceAllele": "",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.1099_1100insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Glu367AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1137,
          "referenceAllele": "",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.1024_1025insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Glu342AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.784+315_784+316insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.784+315_784+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1183,
          "referenceAllele": "",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.1024_1025insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Glu342AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.646+315_646+316insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.646+315_646+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1295,
          "referenceAllele": "",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 462,
          "referenceAllele": "",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.214_215insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Glu72AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "referenceAllele": "",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1118,
          "referenceAllele": "",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.979_980insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Glu327AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.646+315_646+316insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.646+315_646+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1447,
          "referenceAllele": "",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.961_962insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Glu321AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.664+315_664+316insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.664+315_664+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 798,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 798,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.706+315_706+316insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.706+315_706+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1382,
          "referenceAllele": "",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*1110_*1111insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*1110_*1111insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1102_1103insC"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1102_1103insC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Glu368AlafsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Glu368AlafsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1334,
          "referenceAllele": "",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1447,
          "referenceAllele": "",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.961_962insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:p.Glu321AlafsTer10",
        "hgvsWellDefined": "ENSP00000498906.1:p.[Glu321_Leu328delinsAlaArgCysSerLeuAsp;Ser330_Gln333delinsThr;Val335_Asp350del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 1417,
          "referenceAllele": "",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.670+1417_670+1418insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.670+1417_670+1418insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1221,
          "referenceAllele": "",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "referenceAllele": "",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000412061.3:c.453_454insC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1203,
          "referenceAllele": "",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*885_*886insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*885_*886insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.787+315_787+316insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.787+315_787+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "referenceAllele": "",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:p.Glu368AlafsTer10",
        "hgvsWellDefined": "ENSP00000419274.1:p.[Glu368_Leu375delinsAlaArgCysSerLeuAsp;Ser377_Gln380delinsThr;Val382_Asp397del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1334,
          "referenceAllele": "",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 699,
          "referenceAllele": "",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.5:c.699_700insC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1137,
          "referenceAllele": "",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.1024_1025insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:p.Glu342AlafsTer10",
        "hgvsWellDefined": "ENSP00000419988.1:p.[Glu342_Leu349delinsAlaArgCysSerLeuAsp;Ser351_Gln354delinsThr;Val356_Asp371del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.784+315_784+316insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.784+315_784+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.409+315_409+316insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.409+315_409+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.412+315_412+316insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.412+315_412+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.787+315_787+316insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.787+315_787+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1267,
          "referenceAllele": "",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*1038_*1039insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*1038_*1039insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1193,
          "referenceAllele": "",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.961_962insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Glu321AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.646+315_646+316insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.646+315_646+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1295,
          "referenceAllele": "",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:p.Glu368AlafsTer10",
        "hgvsWellDefined": "ENSP00000419103.1:p.[Glu368_Leu375delinsAlaArgCysSerLeuAsp;Ser377_Gln380delinsThr;Val382_Asp397del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 462,
          "referenceAllele": "",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.214_215insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:p.Glu72AlafsTer10",
        "hgvsWellDefined": "ENSP00000418986.1:p.[Glu72_Leu79delinsAlaArgCysSerLeuAsp;Ser81_Gln84delinsThr;Val86_Asp101del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 30477,
          "referenceAllele": "",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 30477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-30478_5-30477insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-30478_5-30477insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 19907,
          "referenceAllele": "",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 19907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-19908_-43-19907insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-19908_-43-19907insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 30842,
          "referenceAllele": "",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 30842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+30842_-99+30843insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+30842_-99+30843insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1118,
          "referenceAllele": "",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.979_980insC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.Glu327AlafsTer10",
        "hgvsWellDefined": "ENSP00000489431.1:p.[Glu327_Leu334delinsAlaArgCysSerLeuAsp;Ser336_Gln339delinsThr;Val341_Asp356del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1334,
          "referenceAllele": "",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.1102_1103insC",
        "LRG_292t1:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1242,
          "referenceAllele": "",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.961_962insC"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Glu321AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.787+315_787+316insC"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.787+315_787+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.787+315_787+316insC"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+315_787+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1334,
          "referenceAllele": "",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.1238_1239insC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1102_1103insC"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1102_1103insC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Glu368AlafsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Glu368AlafsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1155,
          "referenceAllele": "",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.961_962insC"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Glu321AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "endIntronDirection": "+",
          "endIntronOffset": 315,
          "referenceAllele": "",
          "start": 894,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.787+315_787+316insC"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+315_787+316insC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.1102_1103insC"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Glu368AlafsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1279,
          "referenceAllele": "",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.1279_1280insC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}