{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10600031",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.1014A>T (p.Lys338Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41246534T>A?assembly=hg19",
        "id": "chr17:g.41246534T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43094517T>A?assembly=hg38",
        "id": "chr17:g.43094517T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876660793",
        "rs": 876660793
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43094517-T-A?dataset=gnomad_r4",
        "id": "17-43094517-T-A",
        "variant": "17:43094517 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43094517,
          "referenceAllele": "T",
          "start": 43094516
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43094517T>A",
        "CM000679.2:g.43094517T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41246534,
          "referenceAllele": "T",
          "start": 41246533
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41246534T>A",
        "CM000679.1:g.41246534T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38500060,
          "referenceAllele": "T",
          "start": 38500059
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38500060T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 123467,
          "referenceAllele": "A",
          "start": 123466
        }
      ],
      "hgvs": [
        "NG_005905.2:g.123467A>T",
        "LRG_292:g.123467A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "A",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.1078A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1133,
          "referenceAllele": "A",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Lys338Asn",
        "hgvsWellDefined": "ENSP00000417241.2:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "A",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Lys338Asn",
        "hgvsWellDefined": "ENSP00000419274.2:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "referenceAllele": "A",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.888A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Lys296Asn",
        "hgvsWellDefined": "ENSP00000420201.2:p.Lys296Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1120,
          "referenceAllele": "A",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.1011A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Lys337Asn",
        "hgvsWellDefined": "ENSP00000417554.2:p.Lys337Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "A",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.936A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Lys312Asn",
        "hgvsWellDefined": "ENSP00000419988.2:p.Lys312Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.784+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.784+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1095,
          "referenceAllele": "A",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.936A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Lys312Asn",
        "hgvsWellDefined": "ENSP00000420781.2:p.Lys312Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.646+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.646+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1207,
          "referenceAllele": "A",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Lys338Asn",
        "hgvsWellDefined": "ENSP00000419103.2:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "A",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.126A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Lys42Asn",
        "hgvsWellDefined": "ENSP00000418986.2:p.Lys42Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1661,
          "referenceAllele": "A",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Lys338Asn",
        "hgvsWellDefined": "ENSP00000478114.2:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "A",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.891A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Lys297Asn",
        "hgvsWellDefined": "ENSP00000489431.2:p.Lys297Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "A",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Lys338Asn",
        "hgvsWellDefined": "ENSP00000496570.2:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.646+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.646+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1359,
          "referenceAllele": "A",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.873A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Lys291Asn",
        "hgvsWellDefined": "ENSP00000498906.2:p.Lys291Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.664+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.664+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 798,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.706+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.706+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "A",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*1022A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*1022A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "A",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Lys338Asn",
        "hgvsWellDefined": "ENSP00000350283.3:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1014A>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1014A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Lys338Asn"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Lys338Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "A",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Lys338Asn",
        "hgvsWellDefined": "ENSP00000418960.2:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "referenceAllele": "A",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000642945.1:c.*888A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495897.1:n.*888A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1359,
          "referenceAllele": "A",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.873A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:p.Lys291Asn",
        "hgvsWellDefined": "ENSP00000498906.1:p.Lys291Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 1329,
          "referenceAllele": "A",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.670+1329A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.670+1329A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "A",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Lys338Asn",
        "hgvsWellDefined": "ENSP00000326002.7:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1133,
          "referenceAllele": "A",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Lys338Asn",
        "hgvsWellDefined": "ENSP00000350283.3:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000412061.3:c.365A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1115,
          "referenceAllele": "A",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*797A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*797A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.787+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.787+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1175,
          "referenceAllele": "A",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:p.Lys338Asn",
        "hgvsWellDefined": "ENSP00000419274.1:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "A",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Lys338Asn",
        "hgvsWellDefined": "ENSP00000418960.2:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "A",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.5:c.611A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "A",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.936A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:p.Lys312Asn",
        "hgvsWellDefined": "ENSP00000419988.1:p.Lys312Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.784+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.784+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.409+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.409+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.412+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.412+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.787+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.787+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "A",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*950A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*950A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1105,
          "referenceAllele": "A",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.873A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Lys291Asn",
        "hgvsWellDefined": "ENSP00000418775.1:p.Lys291Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.646+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.646+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1207,
          "referenceAllele": "A",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:p.Lys338Asn",
        "hgvsWellDefined": "ENSP00000419103.1:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "A",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.126A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:p.Lys42Asn",
        "hgvsWellDefined": "ENSP00000418986.1:p.Lys42Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 30565,
          "referenceAllele": "A",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 30566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-30566A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-30566A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 19995,
          "referenceAllele": "A",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 19996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-19996A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-19996A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 30754,
          "referenceAllele": "A",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 30753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+30754A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+30754A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "A",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.891A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.Lys297Asn",
        "hgvsWellDefined": "ENSP00000489431.1:p.Lys297Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "A",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.1014A>T",
        "LRG_292t1:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Lys338Asn",
        "hgvsWellDefined": "NP_009225.1:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1154,
          "referenceAllele": "A",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.873A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Lys291Asn",
        "hgvsWellDefined": "NP_009228.2:p.Lys291Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.787+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.787+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.787+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084484012",
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "A",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Lys338Asn",
        "hgvsWellDefined": "NP_009231.2:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1150,
          "referenceAllele": "A",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.1150A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "A",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Lys338Asn",
        "hgvsWellDefined": "NP_009225.1:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1014A>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1014A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Lys338Asn"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Lys338Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.873A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Lys291Asn",
        "hgvsWellDefined": "NP_009228.2:p.Lys291Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 894,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 894,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.787+227A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+227A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084484012",
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "A",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.1014A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Lys338Asn",
        "hgvsWellDefined": "NP_009231.2:p.Lys338Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.1191A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}