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"ENSP00000307235.3:p.Trp224_Asn1116delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255294" }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000415570.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000412076.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000412076.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS284052" }, { "coordinates": [ { "allele": "A", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000419748.5:c.219G>A" ], "proteinEffect": { "hgvs": "ENSP00000408325.1:p.Trp73Ter", "hgvsWellDefined": "ENSP00000408325.1:p.Trp73_Asn965delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286019" }, { "coordinates": [ { "allele": "A", "end": 205, "referenceAllele": "G", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000477083.1:n.205G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317981" }, { "@id": "http://reg.genome.network/allele/PA2741853304", "coordinates": [ { "allele": "A", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_001313915.1:c.219G>A" ], "proteinEffect": { "hgvs": "NP_001300844.1:p.Trp73Ter", "hgvsWellDefined": "NP_001300844.1:p.Trp73_Asn965delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026484" }, { "@id": "http://reg.genome.network/allele/PA2829574825", "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.5:c.672G>A" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Trp224Ter", "hgvsWellDefined": "NP_004827.4:p.Trp224_Asn1116delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029981" }, { "@id": "http://reg.genome.network/allele/PA2829574825", "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.6:c.672G>A" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Trp224Ter", "hgvsWellDefined": "NP_004827.4:p.Trp224_Asn1116delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029982" }, { "coordinates": [ { "allele": "A", "end": 180, "referenceAllele": "G", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XM_005264649.3:c.-13G>A" ], "proteinEffect": { "hgvs": "XP_005264706.1:n.-13G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064329" }, { "coordinates": [ { "allele": "A", "end": 881, "referenceAllele": "G", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XR_939749.1:n.881G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS134445" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XM_017005376.2:c.-13G>A" ], "proteinEffect": { "hgvs": "XP_016860865.1:n.-13G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS560655" }, { "@id": "http://reg.genome.network/allele/PA2829574825", "coordinates": [ { "allele": "A", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.7:c.672G>A" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Trp224Ter", "hgvsWellDefined": "NP_004827.4:p.Trp224_Asn1116delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696252", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303236.9:c.672G>A" }, "RefSeq": { "hgvs": "NM_004836.7:c.672G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307235.3:p.Trp224Ter" }, "RefSeq": { "hgvs": "NP_004827.4:p.Trp224Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741853304", "coordinates": [ { "allele": "A", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_001313915.2:c.219G>A" ], "proteinEffect": { "hgvs": "NP_001300844.1:p.Trp73Ter", "hgvsWellDefined": "NP_001300844.1:p.Trp73_Asn965delinsAspSerAspGluMetGluGlnGluGluAspIleLeuLeuLeuGlnArgThrGlnLysThrValArgAlaValGlyProArgSerGlyAsnGluLysTrpAsnPheSerValGlyHisPheGluLeuArgTyrIleProAspMetGluThrArgAlaGlyPheIleGluSerThrPheLysProAsnGluAsnThrGluGluSerLysIleIleSerAspValGluGluGlnGluAlaAlaIleMetAspIleValIleLysValSerValAlaAspTrpLysValMetAlaPheSerLysLysGlyGlyHisLeuGluTrpGluTyrGlnPheCysThrProIleAlaSerAlaTrpLeuLeuLysAspGlyLysValIleProIleSerLeuPheAspAspThrSerTyrThrSerAsnAspAspValLeuGluAspGluGluAspIleValGluAlaAlaArgGlyAlaThrGluAsnSerValTyrLeuGlyMetTyrArgGlyGlnLeuTyrLeuGlnSerSerValArgIleSerGluLysPheProSerSerProLysAlaLeuGluSerValThrAsnGluAsnAlaIleIleProLeuProThrIleLysTrpLysProLeuIleHisSerProSerArgThrProValLeuValGlySerAspGluPheAspLysCysLeuSerAsnAspLysPheSerHisGluGluTyrSerAsnGlyAlaLeuSerIleLeuGlnTyrProTyrAspAsnGlyTyrTyrLeuProTyrTyrLysArgGluArgAsnLysArgSerThrGlnIleThrValArgPheLeuAspAsnProHisTyrAsnLysAsnIleArgLysLysAspProValLeuLeuLeuHisTrpTrpLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717329" } ], "type": "nucleotide" }