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"http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000682892.1:c.1109G>A" ], "proteinEffect": { "hgvs": "ENSP00000507214.1:p.Trp370Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS745016", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303236.9:c.1562G>A" }, "RefSeq": { "hgvs": "NM_004836.7:c.1562G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307235.3:p.Trp521Ter" }, "RefSeq": { "hgvs": "NP_004827.4:p.Trp521Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1756, "referenceAllele": "G", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000652099.1:c.1756G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772025" }, { "coordinates": [ { "allele": "A", "end": 1438, "referenceAllele": "G", "start": 1437 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000652736.1:n.1438G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772379" }, { "coordinates": [ { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS255294" }, { "coordinates": [ { "allele": "A", "end": 1231, "referenceAllele": "G", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000415570.1:c.1199G>A" ], "proteinEffect": { "hgvs": "ENSP00000412076.1:p.Trp400Ter", "hgvsWellDefined": "ENSP00000412076.1:p.Trp400Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS284052" }, { "coordinates": [ { "allele": "A", "end": 1438, "referenceAllele": "G", "start": 1437 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "ENST00000419748.5:c.1109G>A" ], "proteinEffect": { "hgvs": "ENSP00000408325.1:p.Trp370Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS286019" }, { "@id": "http://reg.genome.network/allele/PA2826947304", "coordinates": [ { "allele": "A", "end": 1438, "referenceAllele": "G", "start": 1437 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_001313915.1:c.1109G>A" ], "proteinEffect": { "hgvs": "NP_001300844.1:p.Trp370Ter", "hgvsWellDefined": "NP_001300844.1:p.Trp371_Asn965delinsLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026484" }, { "@id": "http://reg.genome.network/allele/PA2741914993", "coordinates": [ { "allele": "A", "end": 1864, "referenceAllele": "G", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.5:c.1562G>A" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Trp521Ter", "hgvsWellDefined": "NP_004827.4:p.Trp522_Asn1116delinsLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029981" }, { "@id": "http://reg.genome.network/allele/PA2741914993", "coordinates": [ { "allele": "A", "end": 1864, "referenceAllele": "G", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.6:c.1562G>A" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Trp521Ter", "hgvsWellDefined": "NP_004827.4:p.Trp522_Asn1116delinsLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029982" }, { "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "G", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XM_005264649.3:c.878G>A" ], "proteinEffect": { "hgvs": "XP_005264706.1:p.Trp293Ter", "hgvsWellDefined": "XP_005264706.1:p.Trp294_Asn888delinsLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064329" }, { "coordinates": [ { "allele": "A", "end": 1771, "referenceAllele": "G", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XR_939749.1:n.1771G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS134445" }, { "coordinates": [ { "allele": "A", "end": 1756, "referenceAllele": "G", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "XM_017005376.2:c.878G>A" ], "proteinEffect": { "hgvs": "XP_016860865.1:p.Trp293Ter", "hgvsWellDefined": "XP_016860865.1:p.Trp294_Asn888delinsLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560655" }, { "@id": "http://reg.genome.network/allele/PA2741914993", "coordinates": [ { "allele": "A", "end": 1752, "referenceAllele": "G", "start": 1751 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_004836.7:c.1562G>A" ], "proteinEffect": { "hgvs": "NP_004827.4:p.Trp521Ter", "hgvsWellDefined": "NP_004827.4:p.Trp522_Asn1116delinsLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696252", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303236.9:c.1562G>A" }, "RefSeq": { "hgvs": "NM_004836.7:c.1562G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307235.3:p.Trp521Ter" }, "RefSeq": { "hgvs": "NP_004827.4:p.Trp521Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826947304", "coordinates": [ { "allele": "A", "end": 1438, "referenceAllele": "G", "start": 1437 } ], "gene": "http://reg.genome.network/gene/GN003255", "geneNCBI_id": 9451, "geneSymbol": "EIF2AK3", "hgvs": [ "NM_001313915.2:c.1109G>A" ], "proteinEffect": { "hgvs": "NP_001300844.1:p.Trp370Ter", "hgvsWellDefined": "NP_001300844.1:p.Trp371_Asn965delinsLysGluIleValAlaThrIleLeuPheCysIleIleAlaThrThrPheIleValArgArgLeuPheHisProHisProHisArgGlnArgLysGluSerGluThrGlnCysGlnThrGluAsnLysTyrAspSerValSerGlyGluAlaAsnAspSerSerTrpAsnAspIleLysAsnSerGlyTyrIleSerArgTyrLeuThrAspPheGluProIleGlnCysLeuGlyArgGlyGlyPheGlyValValPheGluAlaLysAsnLysValAspAspCysAsnTyrAlaIleLysArgIleArgLeuProAsnArgGluLeuAlaArgGluLysValMetArgGluValLysAlaLeuAlaLysLeuGluHisProGlyIleValArgTyrPheAsnAlaTrpLeuGluAlaProProGluLysTrpGlnGluLysMetAspGluIleTrpLeuLysAspGluSerThrAspTrpProLeuSerSerProSerProMetAspAlaProSerValLysIleArgArgMetAspProPheAlaThrLysGluHisIleGluIleIleAlaProSerProGlnArgSerArgSerPheSerValGlyIleSerCysAspGlnThrSerSerSerGluSerGlnPheSerProLeuGluPheSerGlyMetAspHisGluAspIleSerGluSerValAspAlaAlaTyrAsnLeuGlnAspSerCysLeuThrAspCysAspValGluAspGlyThrMetAspGlyAsnAspGluGlyHisSerPheGluLeuCysProSerGluAlaSerProTyrValArgSerArgGluArgThrSerSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsnArgLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSerGluAlaThrLeuSerIleSerProProArgProThrThrLeuSerLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717329" } ], "type": "nucleotide" }