{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3265842108",
  "communityStandardTitle": [
    "NM_000400.4(ERCC2):c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC (p.Cys134Ter)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "GGTGTTTTGAAAGTTTTTTTGAGAAAAATTAGCTATGGAGGCGATCTTACAAGT",
          "end": 45365117,
          "referenceAllele": "",
          "start": 45365117
        }
      ],
      "hgvs": [
        "NC_000019.10:g.45365117_45365118insGGTGTTTTGAAAGTTTTTTTGAGAAAAATTAGCTATGGAGGCGATCTTACAAGT",
        "CM000681.2:g.45365117_45365118insGGTGTTTTGAAAGTTTTTTTGAGAAAAATTAGCTATGGAGGCGATCTTACAAGT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "GGTGTTTTGAAAGTTTTTTTGAGAAAAATTAGCTATGGAGGCGATCTTACAAGT",
          "end": 45868375,
          "referenceAllele": "",
          "start": 45868375
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45868375_45868376insGGTGTTTTGAAAGTTTTTTTGAGAAAAATTAGCTATGGAGGCGATCTTACAAGT",
        "CM000681.1:g.45868375_45868376insGGTGTTTTGAAAGTTTTTTTGAGAAAAATTAGCTATGGAGGCGATCTTACAAGT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "GGTGTTTTGAAAGTTTTTTTGAGAAAAATTAGCTATGGAGGCGATCTTACAAGT",
          "end": 50560215,
          "referenceAllele": "",
          "start": 50560215
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50560215_50560216insGGTGTTTTGAAAGTTTTTTTGAGAAAAATTAGCTATGGAGGCGATCTTACAAGT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 10470,
          "referenceAllele": "",
          "start": 10470
        }
      ],
      "hgvs": [
        "NG_007067.2:g.10470_10471insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
        "LRG_461:g.10470_10471insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000447"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 449,
          "referenceAllele": "",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.8:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.4:p.Cys134Ter",
        "hgvsWellDefined": "ENSP00000375808.4:p.Cys134_Pro829delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgValArgProAlaSerProSerArgHisProProArgLeuSerPheSerSerArgLysSerProTrpIleLeuProThrProHisProGlnProAlaCysProProAlaLeuSerLysGluLysPheIleValHisLeuArgAlaArgLeuTrpGlyGluGlyGlyAspSerArgGlyHisArgCysGlnGlnValAlaGlnAlaArgGlnGlyGluArgSerTrpGlyGluGluAlaLeuGlyValPheArgArgAspGlyAlaGlyLeuGluLysAlaGlyProSerProThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824443"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 449,
          "referenceAllele": "",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682414.1:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507019.1:p.Cys134Ter",
        "hgvsWellDefined": "ENSP00000507019.1:p.Cys134_Leu760delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827406"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 430,
          "referenceAllele": "",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682508.1:n.430_431insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827498"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 449,
          "referenceAllele": "",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684218.1:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507804.1:p.Cys134Ter",
        "hgvsWellDefined": "ENSP00000507804.1:p.Cys134_Pro205delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerThrThrSerAlaSerThrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829175"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 349,
          "referenceAllele": "",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684407.1:c.278_279insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507775.1:p.Cys93Ter",
        "hgvsWellDefined": "ENSP00000507775.1:p.Cys93_Leu719delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829362"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 449,
          "referenceAllele": "",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684458.1:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508260.1:p.Cys134Ter",
        "hgvsWellDefined": "ENSP00000508260.1:p.Cys134_Pro459delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysAlaAlaTrpThrProArgTrpProSerAsnProTyrLeuSerValSerSerLeuSerSerSerHisLeuGlyHisCysProArgTrpThrSerThrProArgSerTrpThrSerThrProSerProTrpGlnProSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829412"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 434,
          "referenceAllele": "",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.10:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.4:p.Cys134Ter",
        "hgvsWellDefined": "ENSP00000375809.4:p.Cys134_Leu760delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752942",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Cys134Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Cys134Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 467,
          "referenceAllele": "",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000586131.6:c.329_330insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464887.1:p.Cys110Ter",
        "hgvsWellDefined": "ENSP00000464887.1:p.Cys110Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761023"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 498,
          "referenceAllele": "",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000646507.1:n.498_499insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768913"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 1082,
          "referenceAllele": "",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391941.6:c.329_330insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375805.2:p.Cys110Ter",
        "hgvsWellDefined": "ENSP00000375805.2:p.Cys110_Arg706del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274831"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 407,
          "endIntronDirection": "-",
          "endIntronOffset": 570,
          "referenceAllele": "",
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          "startIntronDirection": "-",
          "startIntronOffset": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.7:c.361-571_361-570insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.3:n.361-571_361-570insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274833"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 479,
          "referenceAllele": "",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.8:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.3:p.Cys134Ter",
        "hgvsWellDefined": "ENSP00000375809.3:p.Cys134_Leu760delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274834"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 548,
          "referenceAllele": "",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
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        "ENST00000485403.6:c.329_330insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431229.2:p.Cys110Ter",
        "hgvsWellDefined": "ENSP00000431229.2:p.Cys110_Pro405delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324435"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 459,
          "referenceAllele": "",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000586131.5:c.329_330insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464887.1:p.Cys110Ter",
        "hgvsWellDefined": "ENSP00000464887.1:p.Cys110Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389189"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 393,
          "referenceAllele": "",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000586441.1:n.393_394insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389391"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 355,
          "endIntronDirection": "-",
          "endIntronOffset": 786,
          "referenceAllele": "",
          "start": 355,
          "startIntronDirection": "-",
          "startIntronOffset": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000586737.5:n.356-787_356-786insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389602"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000586856.1:c.251_252insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466998.1:p.Cys84Ter",
        "hgvsWellDefined": "ENSP00000466998.1:p.Cys84_Glu109del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389688"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 377,
          "endIntronDirection": "-",
          "endIntronOffset": 786,
          "referenceAllele": "",
          "start": 377,
          "startIntronDirection": "-",
          "startIntronOffset": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000591309.5:c.361-787_361-786insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465207.1:n.361-787_361-786insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741814476",
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.3:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
        "LRG_461t1:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Cys134Ter",
        "hgvsWellDefined": "NP_000391.1:p.Cys134_Leu760delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825743767",
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 751,
          "referenceAllele": "",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_001130867.1:c.329_330insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124339.1:p.Cys110Ter",
        "hgvsWellDefined": "NP_001124339.1:p.Cys110_Pro405delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012110"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 429,
          "referenceAllele": "",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.1:c.323_324insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Cys108Ter",
        "hgvsWellDefined": "XP_011524913.1:p.Cys108_Leu734delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093713"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_935763.1:n.448_449insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131004"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 430,
          "referenceAllele": "",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.2:c.323_324insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Cys108Ter",
        "hgvsWellDefined": "XP_011524913.1:p.Cys108_Leu734delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548334"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 344,
          "referenceAllele": "",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_017026467.1:c.278_279insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881956.1:p.Cys93Ter",
        "hgvsWellDefined": "XP_016881956.1:p.Cys93_Leu719delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576612"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753633.2:n.448_449insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600116"
    },
    {
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 448,
          "referenceAllele": "",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753634.2:n.448_449insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741814476",
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 434,
          "referenceAllele": "",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.4:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Cys134Ter",
        "hgvsWellDefined": "NP_000391.1:p.Cys134_Leu760delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyPheThrIleIleIleGluProPheAspAspArgThrProThrIleAlaAsnProIleLeuHisPheSerCysMetAspAlaSerLeuAlaIleLysProValPheGluArgPheGlnSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.401_402insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Cys134Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Cys134Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825743767",
      "coordinates": [
        {
          "allele": "ACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC",
          "end": 737,
          "referenceAllele": "",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_001130867.2:c.329_330insACTTGTAAGATCGCCTCCATAGCTAATTTTTCTCAAAAAAACTTTCAAAACACC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124339.1:p.Cys110Ter",
        "hgvsWellDefined": "NP_001124339.1:p.Cys110_Pro405delinsHisSerLeuThrAlaSerTyrValArgAlaGlnTyrGlnHisAspThrSerLeuProHisCysArgPheTyrGluGluPheAspAlaHisGlyArgGluValProLeuProAlaGlyIleTyrAsnLeuAspAspLeuLysAlaLeuGlyArgArgGlnGlyTrpCysProTyrPheLeuAlaArgTyrSerIleLeuHisAlaAsnValValValTyrSerTyrHisTyrLeuLeuAspProLysIleAlaAspLeuValSerLysGluLeuAlaArgLysAlaValValValPheAspGluAlaHisAsnIleAspAsnValCysIleAspSerMetSerValAsnLeuThrArgArgThrLeuAspArgCysGlnGlyAsnLeuGluThrLeuGlnLysThrValLeuArgIleLysGluThrAspGluGlnArgLeuArgAspGluTyrArgArgLeuValGluGlyLeuArgGluAlaSerAlaAlaArgGluThrAspAlaHisLeuAlaAsnProValLeuProAspGluValLeuGlnGluAlaValProGlySerIleArgThrAlaGluHisPheLeuGlyPheLeuArgArgLeuLeuGluTyrValLysTrpArgLeuArgValGlnHisValValGlnGluSerProProAlaPheLeuSerGlyLeuAlaGlnArgValCysIleGlnArgLysProLeuArgPheCysAlaGluArgLeuArgSerLeuLeuHisThrLeuGluIleThrAspLeuAlaAspPheSerProLeuThrLeuLeuAlaAsnPheAlaThrLeuValSerThrTyrAlaLysGlyGlnAlaGlnHisCysGlySerSerArgAsnGlnLysArgSerHisProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712357"
    }
  ],
  "type": "nucleotide"
}