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"XP_011524913.1:p.Gln426_Leu734delinsSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": 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"XP_011524913.1:p.Gln426_Leu734delinsSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548334" }, { "coordinates": [ { "allele": "T", "end": 1297, "referenceAllele": "C", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XM_017026467.1:c.1231C>T" ], "proteinEffect": { "hgvs": "XP_016881956.1:p.Gln411Ter", "hgvsWellDefined": "XP_016881956.1:p.Gln411_Leu719delinsSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576612" }, { "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "C", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_001753633.2:n.1401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600116" }, { "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "C", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "XR_001753634.2:n.1401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600117" }, { "@id": "http://reg.genome.network/allele/PA2573169202", "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN003434", "geneNCBI_id": 2068, "geneSymbol": "ERCC2", "hgvs": [ "NM_000400.4:c.1354C>T" ], "proteinEffect": { "hgvs": "NP_000391.1:p.Gln452Ter", "hgvsWellDefined": "NP_000391.1:p.Gln452_Leu760delinsSerValIleIleThrSerGlyThrLeuSerProLeuAspIleTyrProLysIleLeuAspPheHisProValThrMetAlaThrPheThrMetThrLeuAlaArgValCysLeuCysProMetIleIleGlyArgGlyAsnAspGlnValAlaIleSerSerLysPheGluThrArgGluAspIleAlaValIleArgAsnTyrGlyAsnLeuLeuLeuGluMetSerAlaValValProAspGlyIleValAlaPhePheThrSerTyrGlnTyrMetGluSerThrValAlaSerTrpTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674827", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000391945.10:c.1354C>T" }, "RefSeq": { "hgvs": "NM_000400.4:c.1354C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375809.4:p.Gln452Ter" }, "RefSeq": { "hgvs": "NP_000391.1:p.Gln452Ter" } } } } ], "type": "nucleotide" }