{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2260763698",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5324T= (p.Met1775=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41293463",
        "rs": 41293463
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43051071,
          "referenceAllele": "A",
          "start": 43051070
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43051071A=",
        "CM000679.2:g.43051071A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41203088,
          "referenceAllele": "A",
          "start": 41203087
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41203088A=",
        "CM000679.1:g.41203088A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38456614,
          "referenceAllele": "A",
          "start": 38456613
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38456614A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 166913,
          "referenceAllele": "T",
          "start": 166912
        }
      ],
      "hgvs": [
        "NG_005905.2:g.166913T=",
        "LRG_292:g.166913T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5440,
          "referenceAllele": "T",
          "start": 5439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5321T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Met1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5505,
          "referenceAllele": "T",
          "start": 5504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5324T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Met1775="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5311,
          "referenceAllele": "T",
          "start": 5310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.5198T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Met1733="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5427,
          "referenceAllele": "T",
          "start": 5426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.5318T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Met1773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5359,
          "referenceAllele": "T",
          "start": 5358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.5246T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Met1749="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "T",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.2012T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Met671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5405,
          "referenceAllele": "T",
          "start": 5404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.5246T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Met1749="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2106,
          "referenceAllele": "T",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.1874T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Met625="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5517,
          "referenceAllele": "T",
          "start": 5516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5324T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Met1775="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4684,
          "referenceAllele": "T",
          "start": 4683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4436T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Met1479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5971,
          "referenceAllele": "T",
          "start": 5970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5324T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Met1775="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5340,
          "referenceAllele": "T",
          "start": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.5201T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Met1734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5503,
          "referenceAllele": "T",
          "start": 5502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5390T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Met1797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2279,
          "referenceAllele": "T",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.1874T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Met625="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5669,
          "referenceAllele": "T",
          "start": 5668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.5183T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Met1728="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1978,
          "referenceAllele": "T",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.1886T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Met629="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5437,
          "referenceAllele": "T",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5324T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Met1775="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5324T="
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5324T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Met1775="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Met1775="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5619,
          "referenceAllele": "T",
          "start": 5618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5387T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Met1796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1711,
          "referenceAllele": "T",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1711T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2017,
          "referenceAllele": "T",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.1898T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Met633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5443,
          "referenceAllele": "T",
          "start": 5442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5324T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Met1775="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5425,
          "referenceAllele": "T",
          "start": 5424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*5107T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*5107T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2206,
          "referenceAllele": "T",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.2012T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Met671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5619,
          "referenceAllele": "T",
          "start": 5618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5387T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Met1796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2111,
          "referenceAllele": "T",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.2012T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Met671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5415,
          "referenceAllele": "T",
          "start": 5414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.5183T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Met1728="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "T",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.254T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:p.Met85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "referenceAllele": "T",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.797T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Met266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 880,
          "referenceAllele": "T",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-98-881T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-98-881T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5556,
          "referenceAllele": "T",
          "start": 5555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5324T=",
        "LRG_292t1:c.5324T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Met1775="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5464,
          "referenceAllele": "T",
          "start": 5463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.5183T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Met1728="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2031,
          "referenceAllele": "T",
          "start": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.2012T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Met671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2206,
          "referenceAllele": "T",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.2012T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Met671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083959886",
      "coordinates": [
        {
          "allele": "T",
          "end": 5619,
          "referenceAllele": "T",
          "start": 5618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5387T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Met1796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5460,
          "referenceAllele": "T",
          "start": 5459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5460T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5437,
          "referenceAllele": "T",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5324T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Met1775="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5324T="
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5324T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Met1775="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Met1775="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5377,
          "referenceAllele": "T",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.5183T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Met1728="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2119,
          "referenceAllele": "T",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.2012T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Met671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083959886",
      "coordinates": [
        {
          "allele": "T",
          "end": 5500,
          "referenceAllele": "T",
          "start": 5499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5387T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Met1796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5501,
          "referenceAllele": "T",
          "start": 5500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5501T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}