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"ENSP00000478667.1:p.Gln785_Thr1185delinsAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrArgAsnThrAsnCysGlyLeuCysThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400463" }, { "@id": "http://reg.genome.network/allele/PA658799964", "coordinates": [ { "allele": "T", "end": 2779, "referenceAllele": "C", "start": 2778 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "NM_000123.3:c.2353C>T", "LRG_464t1:c.2353C>T" ], "proteinEffect": { "hgvs": "NP_000114.2:p.Gln785Ter", "hgvsWellDefined": "NP_000114.2:p.Gln785_Thr1186delinsAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysArgLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysArgLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006185" }, { "coordinates": [ { "allele": "T", "end": 3837, "referenceAllele": "C", "start": 3836 } ], "gene": "http://reg.genome.network/gene/GN043690", "geneNCBI_id": 100533467, "geneSymbol": "BIVM-ERCC5", "hgvs": [ "NM_001204425.1:c.3715C>T" ], "proteinEffect": { "hgvs": "NP_001191354.1:p.Gln1239Ter", "hgvsWellDefined": "NP_001191354.1:p.Gln1239_Thr1640delinsAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysArgLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysArgLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017655" }, { "@id": "http://reg.genome.network/allele/PA2573061347", "coordinates": [ { "allele": "T", "end": 2588, "referenceAllele": "C", "start": 2587 } ], "gene": "http://reg.genome.network/gene/GN003437", "geneNCBI_id": 2073, "geneSymbol": "ERCC5", "hgvs": [ "NM_000123.4:c.2353C>T" ], "proteinEffect": { "hgvs": "NP_000114.3:p.Gln785Ter", "hgvsWellDefined": "NP_000114.3:p.Gln785_Thr1186delinsAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674712", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000652225.2:c.2353C>T" }, "RefSeq": { "hgvs": "NM_000123.4:c.2353C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498881.2:p.Gln785Ter" }, "RefSeq": { "hgvs": "NP_000114.3:p.Gln785Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826273309", "coordinates": [ { "allele": "T", "end": 3837, "referenceAllele": "C", "start": 3836 } ], "gene": "http://reg.genome.network/gene/GN043690", "geneNCBI_id": 100533467, "geneSymbol": "BIVM-ERCC5", "hgvs": [ "NM_001204425.2:c.3715C>T" ], "proteinEffect": { "hgvs": "NP_001191354.2:p.Gln1239Ter", "hgvsWellDefined": "NP_001191354.2:p.Gln1239_Thr1640delinsAlaProMetGluAlaGluAlaGlnCysAlaIleLeuAspLeuThrAspGlnThrSerGlyThrIleThrAspAspSerAspIleTrpLeuPheGlyAlaArgHisValTyrArgAsnPhePheAsnLysAsnLysPheValGluTyrTyrGlnTyrValAspPheHisAsnGlnLeuGlyLeuAspArgAsnLysLeuIleAsnLeuAlaTyrLeuLeuGlySerAspTyrThrGluGlyIleProThrValGlyCysValThrAlaMetGluIleLeuAsnGluPheProGlyHisGlyLeuGluProLeuLeuLysPheSerGluTrpTrpHisGluAlaGlnLysAsnProLysIleArgProAsnProHisAspThrLysValLysLysLysLeuArgThrLeuGlnLeuThrProGlyPheProAsnProAlaValAlaGluAlaTyrLeuLysProValValAspAspSerLysGlySerPheLeuTrpGlyLysProAspLeuAspLysIleArgGluPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679846" } ], "type": "nucleotide" }