{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16043206", "communityStandardTitle": [ "NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4108460", "active": true, "id": "COSM4108460" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360565[alleleid]", "alleleId": 360565, "preferredName": "NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373086", "RCV": [ "RCV000413039", "RCV000807507" ], "variationId": 373086 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.18622050C>T?assembly=hg19", "id": "chrX:g.18622050C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.18603930C>T?assembly=hg38", "id": "chrX:g.18603930C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518203", "rs": 1057518203 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 18603930, "referenceAllele": "C", "start": 18603929 } ], "hgvs": [ "NC_000023.11:g.18603930C>T", "CM000685.2:g.18603930C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 18622050, "referenceAllele": "C", "start": 18622049 } ], "hgvs": [ "NC_000023.10:g.18622050C>T", "CM000685.1:g.18622050C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 18531971, "referenceAllele": "C", "start": 18531970 } ], "hgvs": [ "NC_000023.9:g.18531971C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 183326, "referenceAllele": "C", "start": 183325 } ], "hgvs": [ "NG_008475.1:g.183326C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001114" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1256, "referenceAllele": "C", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000623535.2:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000485244.1:p.Gln336Ter", "hgvsWellDefined": "ENSP00000485244.1:p.Gln336_Leu960delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762406", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623535.2:c.1006C>T" }, "RefSeq": { "hgvs": "NM_001323289.2:c.1006C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485244.1:p.Gln336Ter" }, "RefSeq": { "hgvs": "NP_001310218.1:p.Gln336Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "C", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000635828.1:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000490170.1:p.Gln336Ter", "hgvsWellDefined": "ENSP00000490170.1:p.Gln336_Phe881delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnGlyLeuThrGlnSerLeuArgLeuGluCysSerGlyLysIleMetAlaHisCysSerLeuAspLeuLeuGlySerSerHisSerProIleSerAlaSerArgValThrGlyThrThrGlyThrArgHisHisThrTrpProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762666" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000637881.1:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000489879.1:p.Gln336Ter", "hgvsWellDefined": "ENSP00000489879.1:p.Gln336_Asp471del" }, "referenceSequence": "http://reg.genome.network/refseq/RS764180" }, { "coordinates": [ { "allele": "T", "end": 1256, "referenceAllele": "C", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000674046.1:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000501174.1:p.Gln336Ter", "hgvsWellDefined": "ENSP00000501174.1:p.Gln336_Leu1001delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774071" }, { "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "C", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000379989.6:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000369325.3:p.Gln336Ter", "hgvsWellDefined": "ENSP00000369325.3:p.Gln336_Lys1030delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272729" }, { "coordinates": [ { "allele": "T", "end": 1281, "referenceAllele": "C", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000379996.7:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000369332.3:p.Gln336Ter", "hgvsWellDefined": "ENSP00000369332.3:p.Gln336_Lys1030delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272733" }, { "coordinates": [ { "allele": "T", "end": 1284, "referenceAllele": "C", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000463994.4:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000485184.1:p.Gln336Ter", "hgvsWellDefined": "ENSP00000485184.1:p.Gln336Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS307911" }, { "coordinates": [ { "allele": "T", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "ENST00000623535.1:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000485244.1:p.Gln336Ter", "hgvsWellDefined": "ENSP00000485244.1:p.Gln336_Leu960delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406108" }, { "@id": "http://reg.genome.network/allele/PA2825380194", "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "NM_001037343.1:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001032420.1:p.Gln336Ter", "hgvsWellDefined": "NP_001032420.1:p.Gln336_Lys1030delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009269" }, { "@id": "http://reg.genome.network/allele/PA645374982", "coordinates": [ { "allele": "T", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "NM_003159.2:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_003150.1:p.Gln336Ter", "hgvsWellDefined": "NP_003150.1:p.Gln336_Lys1030delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028428" }, { "coordinates": [ { "allele": "T", "end": 1207, "referenceAllele": "C", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "XM_011545569.1:c.955C>T" ], "proteinEffect": { "hgvs": "XP_011543871.1:p.Gln319Ter", "hgvsWellDefined": "XP_011543871.1:p.Gln319_Lys1054delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112469" }, { "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "XM_011545570.1:c.874C>T" ], "proteinEffect": { "hgvs": "XP_011543872.1:p.Gln292Ter", "hgvsWellDefined": "XP_011543872.1:p.Gln292_Lys1027delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112470" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "XR_950484.1:n.1258C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143567" }, { "@id": "http://reg.genome.network/allele/PA2827187293", "coordinates": [ { "allele": "T", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "NM_001323289.1:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001310218.1:p.Gln336Ter", "hgvsWellDefined": "NP_001310218.1:p.Gln336_Leu960delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515313" }, { "@id": "http://reg.genome.network/allele/PA2827187293", "coordinates": [ { "allele": "T", "end": 1256, "referenceAllele": "C", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "NM_001323289.2:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001310218.1:p.Gln336Ter", "hgvsWellDefined": "NP_001310218.1:p.Gln336_Leu960delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685939", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623535.2:c.1006C>T" }, "RefSeq": { "hgvs": "NM_001323289.2:c.1006C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485244.1:p.Gln336Ter" }, "RefSeq": { "hgvs": "NP_001310218.1:p.Gln336Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825380194", "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "NM_001037343.2:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001032420.1:p.Gln336Ter", "hgvsWellDefined": "NP_001032420.1:p.Gln336_Lys1030delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711572" }, { "@id": "http://reg.genome.network/allele/PA645374982", "coordinates": [ { "allele": "T", "end": 1256, "referenceAllele": "C", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN011411", "geneNCBI_id": 6792, "geneSymbol": "CDKL5", "hgvs": [ "NM_003159.3:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_003150.1:p.Gln336Ter", "hgvsWellDefined": "NP_003150.1:p.Gln336_Lys1030delinsSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727358" } ], "type": "nucleotide" }