{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA270541", "communityStandardTitle": [ "NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153450[alleleid]", "alleleId": 153450, "preferredName": "NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143718", "RCV": [ "RCV000133260" ], "variationId": 143718 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.153296414T>A?assembly=hg19", "id": "chrX:g.153296414T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.154030963T>A?assembly=hg38", "id": "chrX:g.154030963T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/61750259", "rs": 61750259 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 154030963, "referenceAllele": "T", "start": 154030962 } ], "hgvs": [ "NC_000023.11:g.154030963T>A", "CM000685.2:g.154030963T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 153296414, "referenceAllele": "T", "start": 153296413 } ], "hgvs": [ "NC_000023.10:g.153296414T>A", "CM000685.1:g.153296414T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 152949608, "referenceAllele": "T", "start": 152949607 } ], "hgvs": [ "NC_000023.9:g.152949608T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 111165, "referenceAllele": "A", "start": 111164 } ], "hgvs": [ "NG_007107.2:g.111165A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000484" }, { "coordinates": [ { "allele": "T", "end": 111141, "referenceAllele": "A", "start": 111140 } ], "hgvs": [ "NG_007107.3:g.111141A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS733307" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1077, "referenceAllele": "A", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000303391.11:c.865A>T" ], "proteinEffect": { "hgvs": "ENSP00000301948.6:p.Lys289Ter", "hgvsWellDefined": "ENSP00000301948.6:p.Lys289_Ser486delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745028", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303391.11:c.865A>T" }, "RefSeq": { "hgvs": "NM_004992.4:c.865A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301948.6:p.Lys289Ter" }, "RefSeq": { "hgvs": "NP_004983.1:p.Lys289Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "A", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000453960.7:c.901A>T" ], "proteinEffect": { "hgvs": "ENSP00000395535.2:p.Lys301Ter", "hgvsWellDefined": "ENSP00000395535.2:p.Lys301_Ser498delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756448", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453960.7:c.901A>T" }, "RefSeq": { "hgvs": "NM_001110792.2:c.901A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395535.2:p.Lys301Ter" }, "RefSeq": { "hgvs": "NP_001104262.1:p.Lys301Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 65, "endIntronDirection": "-", "endIntronOffset": 26, "referenceAllele": "A", "start": 65, "startIntronDirection": "-", "startIntronOffset": 27 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000637917.1:c.66-27A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764207" }, { "coordinates": [ { "allele": "T", "end": 1115, "referenceAllele": "A", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000303391.10:c.865A>T" ], "proteinEffect": { "hgvs": "ENSP00000301948.6:p.Lys289Ter", "hgvsWellDefined": "ENSP00000301948.6:p.Lys289_Ser486delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255311" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "A", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000407218.5:c.*237A>T" ], "proteinEffect": { "hgvs": "ENSP00000384865.2:n.*237A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS280863" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "A", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000453960.6:c.901A>T" ], "proteinEffect": { "hgvs": "ENSP00000395535.2:p.Lys301Ter", "hgvsWellDefined": "ENSP00000395535.2:p.Lys301_Ser498delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302351" }, { "coordinates": [ { "allele": "T", "end": 1091, "referenceAllele": "A", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000619732.4:c.865A>T" ], "proteinEffect": { "hgvs": "ENSP00000480973.1:p.Lys289Ter", "hgvsWellDefined": "ENSP00000480973.1:p.Lys289_Gly509delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluLeuAlaAspPheThrArgSerGlyLeuGlnSerLysProThrArgIleLysAlaAlaValValSerSerProTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404497" }, { "coordinates": [ { "allele": "T", "end": 949, "referenceAllele": "A", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000622433.4:c.853A>T" ], "proteinEffect": { "hgvs": "ENSP00000484470.1:p.Lys285Ter", "hgvsWellDefined": "ENSP00000484470.1:p.Lys285_Arg324delinsGluPheTyrProIleCysAlaGlyAspArgThrProHisGlnGluAlaGlnAspProGlyAspGlyGlnHisArgGlyGlnGlySerGlyGluAlaProAlaGlyValHisProArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405724" }, { "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "A", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000628176.2:c.*237A>T" ], "proteinEffect": { "hgvs": "ENSP00000486978.1:n.*237A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS407005" }, { "@id": "http://reg.genome.network/allele/PA270543", "coordinates": [ { "allele": "T", "end": 967, "referenceAllele": "A", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001110792.1:c.901A>T" ], "proteinEffect": { "hgvs": "NP_001104262.1:p.Lys301Ter", "hgvsWellDefined": "NP_001104262.1:p.Lys301_Ser498delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011171" }, { "@id": "http://reg.genome.network/allele/PA2826955900", "coordinates": [ { "allele": "T", "end": 1259, "referenceAllele": "A", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001316337.1:c.586A>T" ], "proteinEffect": { "hgvs": "NP_001303266.1:p.Lys196Ter", "hgvsWellDefined": "NP_001303266.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026582" }, { "@id": "http://reg.genome.network/allele/PA270542", "coordinates": [ { "allele": "T", "end": 1091, "referenceAllele": "A", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_004992.3:c.865A>T" ], "proteinEffect": { "hgvs": "NP_004983.1:p.Lys289Ter", "hgvsWellDefined": "NP_004983.1:p.Lys289_Ser486delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030122" }, { "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "A", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_005274681.3:c.865A>T" ], "proteinEffect": { "hgvs": "XP_005274738.1:p.Lys289Ter", "hgvsWellDefined": "XP_005274738.1:p.Lys289_Ser486delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068037" }, { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "A", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_005274682.3:c.586A>T" ], "proteinEffect": { "hgvs": "XP_005274739.1:p.Lys196Ter", "hgvsWellDefined": "XP_005274739.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068038" }, { "coordinates": [ { "allele": "T", "end": 1377, "referenceAllele": "A", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_005274683.3:c.586A>T" ], "proteinEffect": { "hgvs": "XP_005274740.1:p.Lys196Ter", "hgvsWellDefined": "XP_005274740.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068039" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "A", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_006724819.2:c.196A>T" ], "proteinEffect": { "hgvs": "XP_006724882.1:p.Lys66Ter", "hgvsWellDefined": "XP_006724882.1:p.Lys66_Ser263delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075728" }, { "coordinates": [ { "allele": "T", "end": 983, "referenceAllele": "A", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_011531166.1:c.586A>T" ], "proteinEffect": { "hgvs": "XP_011529468.1:p.Lys196Ter", "hgvsWellDefined": "XP_011529468.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098206" }, { "coordinates": [ { "allele": "T", "end": 842, "referenceAllele": "A", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_006724819.3:c.196A>T" ], "proteinEffect": { "hgvs": "XP_006724882.1:p.Lys66Ter", "hgvsWellDefined": "XP_006724882.1:p.Lys66_Ser263delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541076" }, { "coordinates": [ { "allele": "T", "end": 978, "referenceAllele": "A", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_011531166.2:c.586A>T" ], "proteinEffect": { "hgvs": "XP_011529468.1:p.Lys196Ter", "hgvsWellDefined": "XP_011529468.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550259" }, { "coordinates": [ { "allele": "T", "end": 1495, "referenceAllele": "A", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_024452383.1:c.586A>T" ], "proteinEffect": { "hgvs": "XP_024308151.1:p.Lys196Ter", "hgvsWellDefined": "XP_024308151.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585878" }, { "coordinates": [ { "allele": "T", "end": 1036, "referenceAllele": "A", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_024452384.1:c.586A>T" ], "proteinEffect": { "hgvs": "XP_024308152.1:p.Lys196Ter", "hgvsWellDefined": "XP_024308152.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585879" }, { "@id": "http://reg.genome.network/allele/PA270543", "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "A", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001110792.2:c.901A>T" ], "proteinEffect": { "hgvs": "NP_001104262.1:p.Lys301Ter", "hgvsWellDefined": "NP_001104262.1:p.Lys301_Ser498delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676663", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453960.7:c.901A>T" }, "RefSeq": { "hgvs": "NM_001110792.2:c.901A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395535.2:p.Lys301Ter" }, "RefSeq": { "hgvs": "NP_001104262.1:p.Lys301Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826955900", "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "A", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001316337.2:c.586A>T" ], "proteinEffect": { "hgvs": "NP_001303266.1:p.Lys196Ter", "hgvsWellDefined": "NP_001303266.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684168" }, { "@id": "http://reg.genome.network/allele/PA2828325382", "coordinates": [ { "allele": "T", "end": 1540, "referenceAllele": "A", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369391.2:c.586A>T" ], "proteinEffect": { "hgvs": "NP_001356320.1:p.Lys196Ter", "hgvsWellDefined": "NP_001356320.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691616" }, { "@id": "http://reg.genome.network/allele/PA2828326248", "coordinates": [ { "allele": "T", "end": 1189, "referenceAllele": "A", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369392.2:c.586A>T" ], "proteinEffect": { "hgvs": "NP_001356321.1:p.Lys196Ter", "hgvsWellDefined": "NP_001356321.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691617" }, { "@id": "http://reg.genome.network/allele/PA2828327114", "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "A", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369393.2:c.586A>T" ], "proteinEffect": { "hgvs": "NP_001356322.1:p.Lys196Ter", "hgvsWellDefined": "NP_001356322.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691618" }, { "@id": "http://reg.genome.network/allele/PA2828327742", "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "A", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369394.1:c.586A>T" ], "proteinEffect": { "hgvs": "NP_001356323.1:p.Lys196Ter", "hgvsWellDefined": "NP_001356323.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691619" }, { "@id": "http://reg.genome.network/allele/PA2828327742", "coordinates": [ { "allele": "T", "end": 996, "referenceAllele": "A", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369394.2:c.586A>T" ], "proteinEffect": { "hgvs": "NP_001356323.1:p.Lys196Ter", "hgvsWellDefined": "NP_001356323.1:p.Lys196_Ser393delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721143" }, { "@id": "http://reg.genome.network/allele/PA2829068514", "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "A", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001386137.1:c.196A>T" ], "proteinEffect": { "hgvs": "NP_001373066.1:p.Lys66Ter", "hgvsWellDefined": "NP_001373066.1:p.Lys66_Ser263delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724415" }, { "@id": "http://reg.genome.network/allele/PA2829069101", "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "A", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001386138.1:c.196A>T" ], "proteinEffect": { "hgvs": "NP_001373067.1:p.Lys66Ter", "hgvsWellDefined": "NP_001373067.1:p.Lys66_Ser263delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724416" }, { "@id": "http://reg.genome.network/allele/PA2573078730", "coordinates": [ { "allele": "T", "end": 844, "referenceAllele": "A", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001386139.1:c.196A>T" ], "proteinEffect": { "hgvs": "NP_001373068.1:p.Lys66Ter", "hgvsWellDefined": "NP_001373068.1:p.Lys66_Ser263delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724417" }, { "@id": "http://reg.genome.network/allele/PA270542", "coordinates": [ { "allele": "T", "end": 1077, "referenceAllele": "A", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_004992.4:c.865A>T" ], "proteinEffect": { "hgvs": "NP_004983.1:p.Lys289Ter", "hgvsWellDefined": "NP_004983.1:p.Lys289_Ser486delinsGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303391.11:c.865A>T" }, "RefSeq": { "hgvs": "NM_004992.4:c.865A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301948.6:p.Lys289Ter" }, "RefSeq": { "hgvs": "NP_004983.1:p.Lys289Ter" } } } } ], "type": "nucleotide" }