{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412348811", "communityStandardTitle": [ "NM_001323289.2(CDKL5):c.258C>A (p.Tyr86Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3098083[alleleid]", "alleleId": 3098083, "preferredName": "NM_001323289.2(CDKL5):c.258C>A (p.Tyr86Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2946090", "RCV": [ "RCV003806376" ], "variationId": 2946090 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.18593586C>A?assembly=hg19", "id": "chrX:g.18593586C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.18575466C>A?assembly=hg38", "id": "chrX:g.18575466C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307470", "rs": 1085307470 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 18575466, "referenceAllele": "C", "start": 18575465 } ], "hgvs": [ "NC_000023.11:g.18575466C>A", "CM000685.2:g.18575466C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 18593586, "referenceAllele": "C", "start": 18593585 } ], "hgvs": [ "NC_000023.10:g.18593586C>A", "CM000685.1:g.18593586C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 18503507, "referenceAllele": "C", "start": 18503506 } ], "hgvs": [ "NC_000023.9:g.18503507C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 154862, "referenceAllele": "C", "start": 154861 } ], "hgvs": [ "NG_008475.1:g.154862C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001114" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000623535.2:c.258C>A" ], "proteinEffect": { "hgvs": "ENSP00000485244.1:p.Tyr86Ter", "hgvsWellDefined": "ENSP00000485244.1:p.Tyr86_Leu960delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762406", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623535.2:c.258C>A" }, "RefSeq": { "hgvs": "NM_001323289.2:c.258C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485244.1:p.Tyr86Ter" }, "RefSeq": { "hgvs": "NP_001310218.1:p.Tyr86Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000635828.1:c.258C>A" ], "proteinEffect": { "hgvs": "ENSP00000490170.1:p.Tyr86Ter", "hgvsWellDefined": "ENSP00000490170.1:p.Tyr86_Phe881delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnGlyLeuThrGlnSerLeuArgLeuGluCysSerGlyLysIleMetAlaHisCysSerLeuAspLeuLeuGlySerSerHisSerProIleSerAlaSerArgValThrGlyThrThrGlyThrArgHisHisThrTrpProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762666" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000637881.1:c.258C>A" ], "proteinEffect": { "hgvs": "ENSP00000489879.1:p.Tyr86Ter", "hgvsWellDefined": "ENSP00000489879.1:p.Tyr86_Asp471del" }, "referenceSequence": "http://reg.genome.network/refseq/RS764180" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000674046.1:c.258C>A" ], "proteinEffect": { "hgvs": "ENSP00000501174.1:p.Tyr86Ter", "hgvsWellDefined": "ENSP00000501174.1:p.Tyr86_Leu1001delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774071" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000379989.6:c.258C>A" ], "proteinEffect": { "hgvs": "ENSP00000369325.3:p.Tyr86Ter", "hgvsWellDefined": "ENSP00000369325.3:p.Tyr86_Lys1030delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272729" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000379996.7:c.258C>A" ], "proteinEffect": { "hgvs": "ENSP00000369332.3:p.Tyr86Ter", "hgvsWellDefined": "ENSP00000369332.3:p.Tyr86_Lys1030delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272733" }, { "coordinates": [ { "allele": "A", "end": 536, "referenceAllele": "C", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000463994.4:c.258C>A" ], "proteinEffect": { "hgvs": "ENSP00000485184.1:p.Tyr86Ter", "hgvsWellDefined": "ENSP00000485184.1:p.Tyr86Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS307911" }, { "coordinates": [ { "allele": "A", "end": 258, "referenceAllele": "C", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000623535.1:c.258C>A" ], "proteinEffect": { "hgvs": "ENSP00000485244.1:p.Tyr86Ter", "hgvsWellDefined": "ENSP00000485244.1:p.Tyr86_Leu960delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406108" }, { "@id": "http://reg.genome.network/allele/PA2825379987", "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "NM_001037343.1:c.258C>A" ], "proteinEffect": { "hgvs": "NP_001032420.1:p.Tyr86Ter", "hgvsWellDefined": "NP_001032420.1:p.Tyr86_Lys1030delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009269" }, { "@id": "http://reg.genome.network/allele/PA645374749", "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "NM_003159.2:c.258C>A" ], "proteinEffect": { "hgvs": "NP_003150.1:p.Tyr86Ter", "hgvsWellDefined": "NP_003150.1:p.Tyr86_Lys1030delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028428" }, { "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "XM_011545569.1:c.258C>A" ], "proteinEffect": { "hgvs": "XP_011543871.1:p.Tyr86Ter", "hgvsWellDefined": "XP_011543871.1:p.Tyr86_Lys1054delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112469" }, { "coordinates": [ { "allele": "A", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "XM_011545570.1:c.126C>A" ], "proteinEffect": { "hgvs": "XP_011543872.1:p.Tyr42Ter", "hgvsWellDefined": "XP_011543872.1:p.Tyr42_Lys1027delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112470" }, { "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "XR_950484.1:n.510C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143567" }, { "@id": "http://reg.genome.network/allele/PA2827187077", "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "NM_001323289.1:c.258C>A" ], "proteinEffect": { "hgvs": "NP_001310218.1:p.Tyr86Ter", "hgvsWellDefined": "NP_001310218.1:p.Tyr86_Leu960delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515313" }, { "@id": "http://reg.genome.network/allele/PA2827187077", "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "NM_001323289.2:c.258C>A" ], "proteinEffect": { "hgvs": "NP_001310218.1:p.Tyr86Ter", "hgvsWellDefined": "NP_001310218.1:p.Tyr86_Leu960delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685939", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623535.2:c.258C>A" }, "RefSeq": { "hgvs": "NM_001323289.2:c.258C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485244.1:p.Tyr86Ter" }, "RefSeq": { "hgvs": "NP_001310218.1:p.Tyr86Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825379987", "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "NM_001037343.2:c.258C>A" ], "proteinEffect": { "hgvs": "NP_001032420.1:p.Tyr86Ter", "hgvsWellDefined": "NP_001032420.1:p.Tyr86_Lys1030delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711572" }, { "@id": "http://reg.genome.network/allele/PA645374749", "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "NM_003159.3:c.258C>A" ], "proteinEffect": { "hgvs": "NP_003150.1:p.Tyr86Ter", "hgvsWellDefined": "NP_003150.1:p.Tyr86_Lys1030delinsLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727358" } ], "type": "nucleotide" }