{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA002486",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286ArgfsTer20)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46109[alleleid]",
        "alleleId": 46109,
        "preferredName": "NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37553",
        "RCV": [
          "RCV000031134",
          "RCV000048359",
          "RCV000508686",
          "RCV000509638"
        ],
        "variationId": 37553
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41243687_41243690del?assembly=hg19",
        "id": "chr17:g.41243687_41243690del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43091670_43091673del?assembly=hg38",
        "id": "chr17:g.43091670_43091673del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357842",
        "rs": 80357842
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41243686-CCTCA-C?dataset=gnomad_r2_1",
        "id": "17-41243686-CCTCA-C",
        "variant": "17:41243686 CCTCA / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43091669-CCTCA-C?dataset=gnomad_r4",
        "id": "17-43091669-CCTCA-C",
        "variant": "17:43091669 CCTCA / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 43091675,
          "referenceAllele": "CACT",
          "start": 43091671
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43091672_43091675del",
        "CM000679.2:g.43091672_43091675del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 41243692,
          "referenceAllele": "CACT",
          "start": 41243688
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41243689_41243692del",
        "CM000679.1:g.41243689_41243692del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 38497218,
          "referenceAllele": "CACT",
          "start": 38497214
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38497215_38497218del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 126314,
          "referenceAllele": "AGTG",
          "start": 126310
        }
      ],
      "hgvs": [
        "NG_005905.2:g.126311_126314del",
        "LRG_292:g.126311_126314del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3925,
          "referenceAllele": "AGTG",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.3922_3925del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3980,
          "referenceAllele": "AGTG",
          "start": 3976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "ENSP00000417241.2:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4042,
          "referenceAllele": "AGTG",
          "start": 4038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "ENSP00000419274.2:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3848,
          "referenceAllele": "AGTG",
          "start": 3844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.3732_3735del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Ser1244ArgfsTer20",
        "hgvsWellDefined": "ENSP00000420201.2:p.[Ser1244_Thr1247delinsArg;Cys1249_Ser1252delinsGlnAsnValLeu;Phe1254_Gln1257delinsAla;Ser1259_Glu1260delinsPhe;Glu1262_Ala1266delinsHisSerAlaVal;Thr1268_Asn1269delinsTrpLys;Gln1271_Leu1275del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3967,
          "referenceAllele": "AGTG",
          "start": 3963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.3855_3858del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Ser1285ArgfsTer20",
        "hgvsWellDefined": "ENSP00000417554.2:p.[Ser1285_Thr1288delinsArg;Cys1290_Ser1293delinsGlnAsnValLeu;Phe1295_Gln1298delinsAla;Ser1300_Glu1301delinsPhe;Glu1303_Ala1307delinsHisSerAlaVal;Thr1309_Asn1310delinsTrpLys;Gln1312_Leu1316del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3896,
          "referenceAllele": "AGTG",
          "start": 3892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.3780_3783del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Ser1260ArgfsTer20",
        "hgvsWellDefined": "ENSP00000419988.2:p.[Ser1260_Thr1263delinsArg;Cys1265_Ser1268delinsGlnAsnValLeu;Phe1270_Gln1273delinsAla;Ser1275_Glu1276delinsPhe;Glu1278_Ala1282delinsHisSerAlaVal;Thr1284_Asn1285delinsTrpLys;Gln1287_Leu1291del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.785-641_785-638del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.785-641_785-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3942,
          "referenceAllele": "AGTG",
          "start": 3938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.3780_3783del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Ser1260ArgfsTer20",
        "hgvsWellDefined": "ENSP00000420781.2:p.[Ser1260_Thr1263delinsArg;Cys1265_Ser1268delinsGlnAsnValLeu;Phe1270_Gln1273delinsAla;Ser1275_Glu1276delinsPhe;Glu1278_Ala1282delinsHisSerAlaVal;Thr1284_Asn1285delinsTrpLys;Gln1287_Leu1291del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.647-641_647-638del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.647-641_647-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4054,
          "referenceAllele": "AGTG",
          "start": 4050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "ENSP00000419103.2:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3221,
          "referenceAllele": "AGTG",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.2970_2973del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Ser990ArgfsTer20",
        "hgvsWellDefined": "ENSP00000418986.2:p.[Ser990_Thr993delinsArg;Cys995_Ser998delinsGlnAsnValLeu;Phe1000_Gln1003delinsAla;Ser1005_Glu1006delinsPhe;Glu1008_Ala1012delinsHisSerAlaVal;Thr1014_Asn1015delinsTrpLys;Gln1017_Leu1021del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4508,
          "referenceAllele": "AGTG",
          "start": 4504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "ENSP00000478114.2:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3877,
          "referenceAllele": "AGTG",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.3735_3738del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Ser1245ArgfsTer20",
        "hgvsWellDefined": "ENSP00000489431.2:p.[Ser1245_Thr1248delinsArg;Cys1250_Ser1253delinsGlnAsnValLeu;Phe1255_Gln1258delinsAla;Ser1260_Glu1261delinsPhe;Glu1263_Ala1267delinsHisSerAlaVal;Thr1269_Asn1270delinsTrpLys;Gln1272_Leu1276del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3974,
          "referenceAllele": "AGTG",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "ENSP00000496570.2:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1051,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 1051,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.647-641_647-638del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.647-641_647-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4206,
          "referenceAllele": "AGTG",
          "start": 4202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.3717_3720del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Ser1239ArgfsTer20",
        "hgvsWellDefined": "ENSP00000498906.2:p.[Ser1239_Thr1242delinsArg;Cys1244_Ser1247delinsGlnAsnValLeu;Phe1249_Gln1252delinsAla;Ser1254_Glu1255delinsPhe;Glu1257_Ala1261delinsHisSerAlaVal;Thr1263_Asn1264delinsTrpLys;Gln1266_Leu1270del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.665-641_665-638del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.665-641_665-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 798,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 798,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.707-641_707-638del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.707-641_707-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3974,
          "referenceAllele": "AGTG",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3858_3861del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3858_3861del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Ser1286ArgfsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Ser1286ArgfsTer20"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4093,
          "referenceAllele": "AGTG",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 182,
          "referenceAllele": "AGTG",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.179_182del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.671-641_671-638del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.671-641_671-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3925,
          "referenceAllele": "AGTG",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "ENSP00000326002.7:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3980,
          "referenceAllele": "AGTG",
          "start": 3976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3962,
          "referenceAllele": "AGTG",
          "start": 3958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*3641_*3644del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*3641_*3644del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 155,
          "referenceAllele": "AGTG",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.1:c.152_155del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247367"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.788-641_788-638del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.788-641_788-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4093,
          "referenceAllele": "AGTG",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.785-641_785-638del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.785-641_785-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.410-641_410-638del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.410-641_410-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 412,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 412,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.413-641_413-638del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.413-641_413-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.788-641_788-638del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.788-641_788-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3952,
          "referenceAllele": "AGTG",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.3717_3720del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Ser1239ArgfsTer20",
        "hgvsWellDefined": "ENSP00000418775.1:p.[Ser1239_Thr1242delinsArg;Cys1244_Ser1247delinsGlnAsnValLeu;Phe1249_Gln1252delinsAla;Ser1254_Glu1255delinsPhe;Glu1257_Ala1261delinsHisSerAlaVal;Thr1263_Asn1264delinsTrpLys;Gln1266_Leu1270del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.647-641_647-638del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.647-641_647-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 27718,
          "referenceAllele": "AGTG",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 27722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-27722_5-27719del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-27722_5-27719del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 17148,
          "referenceAllele": "AGTG",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 17152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-17152_-43-17149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-17152_-43-17149del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 33601,
          "referenceAllele": "AGTG",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 33597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+33598_-99+33601del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+33598_-99+33601del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4093,
          "referenceAllele": "AGTG",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.3858_3861del",
        "LRG_292t1:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "NP_009225.1:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4001,
          "referenceAllele": "AGTG",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.3717_3720del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Ser1239ArgfsTer20",
        "hgvsWellDefined": "NP_009228.2:p.[Ser1239_Thr1242delinsArg;Cys1244_Ser1247delinsGlnAsnValLeu;Phe1249_Gln1252delinsAla;Ser1254_Glu1255delinsPhe;Glu1257_Ala1261delinsHisSerAlaVal;Thr1263_Asn1264delinsTrpLys;Gln1266_Leu1270del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.788-641_788-638del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.788-641_788-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.788-641_788-638del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-641_788-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4093,
          "referenceAllele": "AGTG",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "NP_009231.2:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3997,
          "referenceAllele": "AGTG",
          "start": 3993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.3994_3997del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3974,
          "referenceAllele": "AGTG",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "NP_009225.1:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3858_3861del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3858_3861del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Ser1286ArgfsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Ser1286ArgfsTer20"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3914,
          "referenceAllele": "AGTG",
          "start": 3910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.3717_3720del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Ser1239ArgfsTer20",
        "hgvsWellDefined": "NP_009228.2:p.[Ser1239_Thr1242delinsArg;Cys1244_Ser1247delinsGlnAsnValLeu;Phe1249_Gln1252delinsAla;Ser1254_Glu1255delinsPhe;Glu1257_Ala1261delinsHisSerAlaVal;Thr1263_Asn1264delinsTrpLys;Gln1266_Leu1270del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 637,
          "referenceAllele": "AGTG",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.788-641_788-638del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-641_788-638del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3974,
          "referenceAllele": "AGTG",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.3858_3861del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Ser1286ArgfsTer20",
        "hgvsWellDefined": "NP_009231.2:p.[Ser1286_Thr1289delinsArg;Cys1291_Ser1294delinsGlnAsnValLeu;Phe1296_Gln1299delinsAla;Ser1301_Glu1302delinsPhe;Glu1304_Ala1308delinsHisSerAlaVal;Thr1310_Asn1311delinsTrpLys;Gln1313_Leu1317del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4038,
          "referenceAllele": "AGTG",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.4035_4038del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}