{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3051771973", "communityStandardTitle": [ "NM_001040142.2(SCN2A):c.3532_3533insCTT (p.Lys1178ThrfsTer2)" ], "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "CTT", "end": 165367228, "referenceAllele": "", "start": 165367228 } ], "hgvs": [ "NC_000002.12:g.165367228_165367229insCTT", "CM000664.2:g.165367228_165367229insCTT" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "CTT", "end": 166223738, "referenceAllele": "", "start": 166223738 } ], "hgvs": [ "NC_000002.11:g.166223738_166223739insCTT", "CM000664.1:g.166223738_166223739insCTT" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "CTT", "end": 165931984, "referenceAllele": "", "start": 165931984 } ], "hgvs": [ "NC_000002.10:g.165931984_165931985insCTT" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "CTT", "end": 132827, "referenceAllele": "", "start": 132827 } ], "hgvs": [ "NG_008143.1:g.132827_132828insCTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS000889" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "CTT", "end": 3810, "referenceAllele": "", "start": 3810 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000631182.3:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "ENSP00000486885.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": "ENSP00000486885.1:p.[Lys1178_Lys1199delinsPheLysCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer;Cys1201_Lys2005delinsTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS826623", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000631182.3:c.3532_3533insCTT" }, "RefSeq": { "hgvs": "NM_001371246.1:c.3532_3533insCTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000486885.1:p.Lys1178ThrfsTer2" }, "RefSeq": { "hgvs": "NP_001358175.1:p.Lys1178ThrfsTer2" } } } }, { "coordinates": [ { "allele": "CTT", "end": 3810, "referenceAllele": "", "start": 3810 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000375437.7:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "ENSP00000364586.2:p.Lys1178ThrfsTer2", "hgvsWellDefined": "ENSP00000364586.2:p.[Lys1178_Lys1199delinsPheLysCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer;Cys1201_Lys2005delinsTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS751612", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375437.7:c.3532_3533insCTT" }, "RefSeq": { "hgvs": "NM_001040142.2:c.3532_3533insCTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364586.2:p.Lys1178ThrfsTer2" }, "RefSeq": { "hgvs": "NP_001035232.1:p.Lys1178ThrfsTer2" } } } }, { "coordinates": [ { "allele": "CTT", "end": 3909, "referenceAllele": "", "start": 3909 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000636071.2:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "ENSP00000490107.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": "ENSP00000490107.1:p.[Lys1178_Lys1199delinsPheLysCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer;Cys1201_Lys2005delinsTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS762851" }, { "coordinates": [ { "allele": "CTT", "end": 3831, "referenceAllele": "", "start": 3831 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000636135.1:c.*1851_*1852insCTT" ], "proteinEffect": { "hgvs": "ENSP00000489821.1:n.*1851_*1852insCTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS762897" }, { "coordinates": [ { "allele": "CTT", "end": 4035, "referenceAllele": "", "start": 4035 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000636384.2:c.*1519_*1520insCTT" ], "proteinEffect": { "hgvs": "ENSP00000490765.1:n.*1519_*1520insCTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS763075" }, { "coordinates": [ { "allele": "CTT", "end": 4484, "referenceAllele": "", "start": 4484 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000636662.2:c.*4055_*4056insCTT" ], "proteinEffect": { "hgvs": "ENSP00000489873.1:n.*4055_*4056insCTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS763290" }, { "coordinates": [ { "allele": "CTT", "end": 3765, "referenceAllele": "", "start": 3765 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000636769.1:c.*1474_*1475insCTT" ], "proteinEffect": { "hgvs": "ENSP00000490800.1:n.*1474_*1475insCTT" }, "referenceSequence": "http://reg.genome.network/refseq/RS763366" }, { "coordinates": [ { "allele": "CTT", "end": 3884, "referenceAllele": "", "start": 3884 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000636985.2:c.3136_3137insCTT" ], "proteinEffect": { "hgvs": "ENSP00000490849.1:p.Lys1046ThrfsTer2", "hgvsWellDefined": "ENSP00000490849.1:p.[Lys1046_Lys1067delinsPheLysCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer;Cys1069_Lys1873delinsTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS763522" }, { "coordinates": [ { "allele": "CTT", "end": 3638, "referenceAllele": "", "start": 3638 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000637266.2:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "ENSP00000490866.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS763740" }, { "coordinates": [ { "allele": "CTT", "end": 3688, "referenceAllele": "", "start": 3688 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000283256.10:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "ENSP00000283256.6:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS253151" }, { "coordinates": [ { "allele": "CTT", "end": 3583, "referenceAllele": "", "start": 3583 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000375427.4:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "ENSP00000364576.2:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS270704" }, { "coordinates": [ { "allele": "CTT", "end": 3822, "referenceAllele": "", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000375437.6:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "ENSP00000364586.2:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS270710" }, { "coordinates": [ { "allele": "CTT", "end": 3675, "referenceAllele": "", "start": 3675 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000480032.4:n.3675_3676insCTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS320280" }, { "coordinates": [ { "allele": "CTT", "end": 3736, "referenceAllele": "", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "ENST00000631182.2:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "ENSP00000486885.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": "ENSP00000486885.1:p.[Lys1178_Lys1199delinsPheLysCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer;Cys1201_Lys2005delinsTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS407485" }, { "coordinates": [ { "allele": "CTT", "end": 3822, "referenceAllele": "", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_001040142.1:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "NP_001035232.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": "NP_001035232.1:p.[Lys1178_Lys1199delinsPheLysCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer;Cys1201_Lys2005delinsTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009521" }, { "coordinates": [ { "allele": "CTT", "end": 3583, "referenceAllele": "", "start": 3583 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_001040143.1:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "NP_001035233.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": "NP_001035233.1:p.[Lys1178_Lys1199delinsPheLysCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer;Cys1201_Lys2005delinsTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009522" }, { "coordinates": [ { "allele": "CTT", "end": 3888, "referenceAllele": "", "start": 3888 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_021007.2:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "NP_066287.2:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS036761" }, { "coordinates": [ { "allele": "CTT", "end": 3712, "referenceAllele": "", "start": 3712 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_005246750.2:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "XP_005246807.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057775" }, { "coordinates": [ { "allele": "CTT", "end": 3832, "referenceAllele": "", "start": 3832 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_005246753.2:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "XP_005246810.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057776" }, { "coordinates": [ { "allele": "CTT", "end": 3725, "referenceAllele": "", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_005246754.3:c.3502_3503insCTT" ], "proteinEffect": { "hgvs": "XP_005246811.1:p.Lys1168ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057777" }, { "coordinates": [ { "allele": "CTT", "end": 2921, "referenceAllele": "", "start": 2921 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_005246755.3:c.2779_2780insCTT" ], "proteinEffect": { "hgvs": "XP_005246812.1:p.Lys927ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057778" }, { "coordinates": [ { "allele": "CTT", "end": 3972, "referenceAllele": "", "start": 3972 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_011511608.1:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "XP_011509910.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS078869" }, { "coordinates": [ { "allele": "CTT", "end": 3865, "referenceAllele": "", "start": 3865 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_011511609.1:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "XP_011509911.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS078870" }, { "coordinates": [ { "allele": "CTT", "end": 3838, "referenceAllele": "", "start": 3838 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_005246753.3:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "XP_005246810.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS532689" }, { "coordinates": [ { "allele": "CTT", "end": 3793, "referenceAllele": "", "start": 3793 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_017004656.1:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "XP_016860145.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS560106" }, { "coordinates": [ { "allele": "CTT", "end": 3690, "referenceAllele": "", "start": 3690 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_017004657.1:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "XP_016860146.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS560107" }, { "coordinates": [ { "allele": "CTT", "end": 4002, "referenceAllele": "", "start": 4002 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_017004658.1:c.2779_2780insCTT" ], "proteinEffect": { "hgvs": "XP_016860147.1:p.Lys927ThrfsTer2", "hgvsWellDefined": "XP_016860147.1:p.[Lys927_Lys948delinsPheLysCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer;Cys950_Lys1754delinsTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS560108" }, { "coordinates": [ { "allele": "CTT", "end": 2920, "referenceAllele": "", "start": 2920 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_017004659.1:c.1330_1331insCTT" ], "proteinEffect": { "hgvs": "XP_016860148.1:p.Lys444ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS560109" }, { "coordinates": [ { "allele": "CTT", "end": 3746, "referenceAllele": "", "start": 3746 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "XM_024453037.1:c.2779_2780insCTT" ], "proteinEffect": { "hgvs": "XP_024308805.1:p.Lys927ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS586424" }, { "coordinates": [ { "allele": "CTT", "end": 3810, "referenceAllele": "", "start": 3810 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_001040142.2:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "NP_001035232.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS663144", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375437.7:c.3532_3533insCTT" }, "RefSeq": { "hgvs": "NM_001040142.2:c.3532_3533insCTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364586.2:p.Lys1178ThrfsTer2" }, "RefSeq": { "hgvs": "NP_001035232.1:p.Lys1178ThrfsTer2" } } } }, { "coordinates": [ { "allele": "CTT", "end": 3929, "referenceAllele": "", "start": 3929 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_001040143.2:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "NP_001035233.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": "NP_001035233.1:p.[Lys1178_Lys1199delinsPheLysCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer;Cys1201_Lys2005delinsTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS675962" }, { "coordinates": [ { "allele": "CTT", "end": 3810, "referenceAllele": "", "start": 3810 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_001371246.1:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "NP_001358175.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": "NP_001358175.1:p.[Lys1178_Lys1199delinsPheLysCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer;Cys1201_Lys2005delinsTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692751", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000631182.3:c.3532_3533insCTT" }, "RefSeq": { "hgvs": "NM_001371246.1:c.3532_3533insCTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000486885.1:p.Lys1178ThrfsTer2" }, "RefSeq": { "hgvs": "NP_001358175.1:p.Lys1178ThrfsTer2" } } } }, { "coordinates": [ { "allele": "CTT", "end": 3638, "referenceAllele": "", "start": 3638 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_001371247.1:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "NP_001358176.1:p.Lys1178ThrfsTer2", "hgvsWellDefined": "NP_001358176.1:p.[Lys1178_Lys1199delinsPheLysCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer;Cys1201_Lys2005delinsTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692752" }, { "coordinates": [ { "allele": "CTT", "end": 3664, "referenceAllele": "", "start": 3664 } ], "gene": "http://reg.genome.network/gene/GN010588", "geneNCBI_id": 6326, "geneSymbol": "SCN2A", "hgvs": [ "NM_021007.3:c.3532_3533insCTT" ], "proteinEffect": { "hgvs": "NP_066287.2:p.Lys1178ThrfsTer2", "hgvsWellDefined": "NP_066287.2:p.[Lys1178_Lys1199delinsPheLysCysCysGlnIleSerIleGluGluGlyLysGlyLysLeuTrpTrpAsnLeuArgLysThrCysTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer;Cys1201_Lys2005delinsTyrLysIleValGluHisAsnTrpPheGluThrPheIleValPheMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluGlnArgLysThrIleLysThrMetLeuGluTyrAlaAspLysValPheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpValAlaTyrGlyPheGlnValTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValSerLeuThrAlaAsnAlaLeuGlyTyrSerGluLeuGlyAlaIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuLeuGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrHisCysIleAsnTyrThrThrGlyGluMetPheAspValSerValValAsnAsnTyrSerGluCysLysAlaLeuIleGluSerAsnGlnThrAlaArgTrpLysAsnValLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpMetAspIleMetTyrAlaAlaValAspSerArgAsnValGluLeuGlnProLysTyrGluAspAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysPheGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProAlaAsnLysPheGlnGlyMetValPheAspPheValThrLysGlnValPheAspIleSerIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAspGlnSerGlnGluMetThrAsnIleLeuTyrTrpIleAsnLeuValPheIleValLeuPheThrGlyGluCysValLeuLysLeuIleSerLeuArgTyrTyrTyrPheThrIleGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyMetPheLeuAlaGluLeuIleGluLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgIleLeuArgLeuIleLysGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrAlaIlePheGlyMetSerAsnPheAlaTyrValLysArgGluValGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerMetIleCysLeuPheGlnIleThrThrSerAlaGlyTrpAspGlyLeuLeuAlaProIleLeuAsnSerGlyProProAspCysAspProAspLysAspHisProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheIleGluPheAlaLysLeuSerAspPheAlaAspAlaLeuAspProProLeuLeuIleAlaLysProAsnLysValGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaIleIleIleGlnArgAlaTyrArgArgTyrLeuLeuLysGlnLysValLysLysValSerSerIleTyrLysLysAspLysGlyLysGluCysAspGlyThrProIleLysGluAspThrLeuIleAspLysLeuAsnGluAsnSerThrProGluLysThrAspMetThrProSerThrThrSerProProSerTyrAspSerValThrLysProGluLysGluLysPheGluLysAspLysSerGluLysGluAspLysGlyLysAspIleArgGluSerLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS698348" } ], "type": "nucleotide" }