{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA002746",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46137[alleleid]",
        "alleleId": 46137,
        "preferredName": "NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37581",
        "RCV": [
          "RCV000031162",
          "RCV000074592",
          "RCV000048511",
          "RCV000162876",
          "RCV000465234"
        ],
        "variationId": 37581
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41256153C>A?assembly=hg19",
        "id": "chr17:g.41256153C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43104136C>A?assembly=hg38",
        "id": "chr17:g.43104136C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356991",
        "rs": 80356991
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43104136-C-A?dataset=gnomad_r4",
        "id": "17-43104136-C-A",
        "variant": "17:43104136 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43104136,
          "referenceAllele": "C",
          "start": 43104135
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43104136C>A",
        "CM000679.2:g.43104136C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41256153,
          "referenceAllele": "C",
          "start": 41256152
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41256153C>A",
        "CM000679.1:g.41256153C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38509679,
          "referenceAllele": "C",
          "start": 38509678
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38509679C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113848,
          "referenceAllele": "G",
          "start": 113847
        }
      ],
      "hgvs": [
        "NG_005905.2:g.113848G>T",
        "LRG_292:g.113848G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.491G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "G",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "G",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "G",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.349G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Glu117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Glu143Ter",
        "hgvsWellDefined": "ENSP00000420412.2:p.Glu143_Tyr759delinsAsnProSerLeuGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.349G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Glu117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Glu96Ter",
        "hgvsWellDefined": "ENSP00000418819.2:p.Glu96_Tyr713delinsAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 9275,
          "referenceAllele": "G",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 9276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.-218-9276G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:n.-218-9276G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "G",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Glu96Ter",
        "hgvsWellDefined": "ENSP00000494614.2:p.Glu96_Tyr713delinsAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Glu96Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "G",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Glu143Ter",
        "hgvsWellDefined": "ENSP00000419481.2:p.Glu143_Tyr717delinsAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.349G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:p.Glu117Ter",
        "hgvsWellDefined": "ENSP00000514849.1:p.Glu117_Thr544delinsAsnProSerLeuGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheValSerValSerIleCysIleSerLeuMetThrLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*341G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*341G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700184.1:n.670G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.427G>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.427G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Glu143Ter"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Glu143Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000642945.1:c.*301G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495897.1:n.*301G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:p.Glu96Ter",
        "hgvsWellDefined": "ENSP00000498906.1:p.Glu96Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "G",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Glu143Ter",
        "hgvsWellDefined": "ENSP00000312236.5:p.Glu143_Tyr721delinsAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "G",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 531,
          "referenceAllele": "G",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*213G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*213G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461798.5:c.*213G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417988.1:n.*213G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "G",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Glu143Ter",
        "hgvsWellDefined": "ENSP00000417148.1:p.Glu143_Val699delinsAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:p.Glu143Ter",
        "hgvsWellDefined": "ENSP00000419274.1:p.Glu143_Glu649del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.5:c.150G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.5:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.1:p.Glu143Ter",
        "hgvsWellDefined": "ENSP00000417554.1:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "G",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.349G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:p.Glu117Ter",
        "hgvsWellDefined": "ENSP00000419988.1:p.Glu117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:p.Glu143Ter",
        "hgvsWellDefined": "ENSP00000420412.1:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.175G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:p.Glu59Ter",
        "hgvsWellDefined": "ENSP00000419481.1:p.Glu59Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.175G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:p.Glu59Ter",
        "hgvsWellDefined": "ENSP00000418212.1:p.Glu59Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Glu143Ter",
        "hgvsWellDefined": "ENSP00000420705.2:p.Glu143_Tyr759delinsAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*363G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*363G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Glu96Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:p.Glu96Ter",
        "hgvsWellDefined": "ENSP00000418819.1:p.Glu96_Ser572del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:p.Glu143Ter",
        "hgvsWellDefined": "ENSP00000419103.1:p.Glu143_Asn473del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 9275,
          "referenceAllele": "G",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 9276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.-218-9276G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:n.-218-9276G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "+",
          "endIntronOffset": 21046,
          "referenceAllele": "G",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 21045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.4+21046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.4+21046G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 21135,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 21134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-44+21135G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-44+21135G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 21135,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 21134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+21135G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+21135G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.Glu143Ter",
        "hgvsWellDefined": "ENSP00000489431.1:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.427G>T",
        "LRG_292t1:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Glu96Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829699633",
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Glu143Ter",
        "hgvsWellDefined": "NP_009229.2:p.Glu143_Tyr759delinsAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913197955",
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "G",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Glu143Ter",
        "hgvsWellDefined": "NP_009230.2:p.Glu143_Val699delinsAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.566G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.427G>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.427G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Glu143Ter"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Glu143Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Glu96Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913197955",
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Glu143Ter",
        "hgvsWellDefined": "NP_009230.2:p.Glu143_Val699delinsAsnProSerLeuGlnGluThrSerLeuSerValGlnLeuSerAsnLeuGlyThrValArgThrLeuArgThrLysGlnArgIleGlnProGlnLysThrSerValTyrIleGluLeuGlySerAspSerSerGluAspThrValAsnLysAlaThrTyrCysSerValGlyAspGlnGluLeuLeuGlnIleThrProGlnGlyThrArgAspGluIleSerLeuAspSerAlaLysLysAlaAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrGlyCysProProAsnCysGlyCysAlaAlaArgCysLeuAspArgGlyGlnTrpLeuProCysAsnTrpAlaAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Glu143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.607G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}