{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA003981",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.952_1015del (p.His318ArgfsTer2)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46266[alleleid]",
        "alleleId": 46266,
        "preferredName": "NM_007294.4(BRCA1):c.952_1015del (p.His318fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37710",
        "RCV": [
          "RCV000031291",
          "RCV000555985",
          "RCV001019459",
          "RCV003311664"
        ],
        "variationId": 37710
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41246533_41246596del?assembly=hg19",
        "id": "chr17:g.41246533_41246596del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43094516_43094579del?assembly=hg38",
        "id": "chr17:g.43094516_43094579del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80359872",
        "rs": 80359872
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 43094581,
          "referenceAllele": "TTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTT",
          "start": 43094517
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43094518_43094581del",
        "CM000679.2:g.43094518_43094581del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 41246598,
          "referenceAllele": "TTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTT",
          "start": 41246534
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41246535_41246598del",
        "CM000679.1:g.41246535_41246598del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 38500124,
          "referenceAllele": "TTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTT",
          "start": 38500060
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38500061_38500124del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 123468,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 123404
        }
      ],
      "hgvs": [
        "NG_005905.2:g.123405_123468del",
        "LRG_292:g.123405_123468del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1079,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.1016_1079del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1134,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1196,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1002,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.826_889del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.His276ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1121,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.949_1012del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.His317ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1050,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.874_937del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.His292ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.784+165_784+228del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.784+165_784+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1096,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.874_937del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.His292ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.646+165_646+228del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.646+165_646+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1208,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 375,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.64_127del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.His22ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1662,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1031,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.829_892del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.His277ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1128,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.646+165_646+228del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.646+165_646+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1360,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.811_874del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.His271ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.664+165_664+228del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.664+165_664+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 798,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 798,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.706+165_706+228del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.706+165_706+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1295,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*960_*1023del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*960_*1023del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1128,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.952_1015del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.952_1015del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.His318ArgfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.His318ArgfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1247,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1221,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000642945.1:c.*826_*889del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495897.1:n.*826_*889del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1360,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.811_874del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:p.His271ArgfsTer2",
        "hgvsWellDefined": "ENSP00000498906.1:p.[His271_Asn272del;Trp274_Glu321del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 1330,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.670+1267_670+1330del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.670+1267_670+1330del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1079,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1134,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 366,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000412061.3:c.303_366del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1116,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*735_*798del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*735_*798del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.787+165_787+228del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.787+165_787+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1176,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:p.His318ArgfsTer2",
        "hgvsWellDefined": "ENSP00000419274.1:p.[His318_Asn319del;Trp321_Glu368del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1247,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 612,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.5:c.549_612del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247258"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1050,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.874_937del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:p.His292ArgfsTer2",
        "hgvsWellDefined": "ENSP00000419988.1:p.[His292_Asn293del;Trp295_Glu342del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.784+165_784+228del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.784+165_784+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.409+165_409+228del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.409+165_409+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.412+165_412+228del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.412+165_412+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.787+165_787+228del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.787+165_787+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1180,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*888_*951del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*888_*951del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1106,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.811_874del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.His271ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.646+165_646+228del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.646+165_646+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1208,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:p.His318ArgfsTer2",
        "hgvsWellDefined": "ENSP00000419103.1:p.[His318_Asn319del;Trp321_Glu368del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 375,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.64_127del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:p.His22ArgfsTer2",
        "hgvsWellDefined": "ENSP00000418986.1:p.[His22_Asn23del;Trp25_Glu72del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 30564,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 30602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.4+30603_5-30565del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.4+30603_5-30565del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 19994,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 20058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-20058_-43-19995del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-20058_-43-19995del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 30755,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 30691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+30692_-99+30755del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+30692_-99+30755del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1031,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.829_892del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.His277ArgfsTer2",
        "hgvsWellDefined": "ENSP00000489431.1:p.[His277_Asn278del;Trp280_Glu327del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1247,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.952_1015del",
        "LRG_292t1:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1155,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.811_874del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.His271ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.787+165_787+228del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.787+165_787+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.787+165_787+228del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+165_787+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1247,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1151,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.1088_1151del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1128,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.952_1015del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.952_1015del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.His318ArgfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.His318ArgfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1068,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.811_874del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.His271ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 894,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 894,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.787+165_787+228del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+165_787+228del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1128,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.952_1015del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.His318ArgfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1192,
          "referenceAllele": "TAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAACA",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.1129_1192del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}