{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA270340", "communityStandardTitle": [ "NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6412310", "active": true, "id": "COSM6412310" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153262[alleleid]", "alleleId": 153262, "preferredName": "NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143530", "RCV": [ "RCV000133062", "RCV001849958" ], "variationId": 143530 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.153297724C>T?assembly=hg19", "id": "chrX:g.153297724C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.154032273C>T?assembly=hg38", "id": "chrX:g.154032273C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/61754455", "rs": 61754455 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 154032273, "referenceAllele": "C", "start": 154032272 } ], "hgvs": [ "NC_000023.11:g.154032273C>T", "CM000685.2:g.154032273C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 153297724, "referenceAllele": "C", "start": 153297723 } ], "hgvs": [ "NC_000023.10:g.153297724C>T", "CM000685.1:g.153297724C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 152950918, "referenceAllele": "C", "start": 152950917 } ], "hgvs": [ "NC_000023.9:g.152950918C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 109855, "referenceAllele": "G", "start": 109854 } ], "hgvs": [ "NG_007107.2:g.109855G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000484" }, { "coordinates": [ { "allele": "A", "end": 109831, "referenceAllele": "G", "start": 109830 } ], "hgvs": [ "NG_007107.3:g.109831G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS733307" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 523, "referenceAllele": "G", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000303391.11:c.311G>A" ], "proteinEffect": { "hgvs": "ENSP00000301948.6:p.Trp104Ter", "hgvsWellDefined": "ENSP00000301948.6:p.Trp104_Ser486delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745028", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303391.11:c.311G>A" }, "RefSeq": { "hgvs": "NM_004992.4:c.311G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301948.6:p.Trp104Ter" }, "RefSeq": { "hgvs": "NP_004983.1:p.Trp104Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000453960.7:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000395535.2:p.Trp116Ter", "hgvsWellDefined": "ENSP00000395535.2:p.Trp116_Ser498delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756448", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453960.7:c.347G>A" }, "RefSeq": { "hgvs": "NM_001110792.2:c.347G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395535.2:p.Trp116Ter" }, "RefSeq": { "hgvs": "NP_001104262.1:p.Trp116Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "G", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000303391.10:c.311G>A" ], "proteinEffect": { "hgvs": "ENSP00000301948.6:p.Trp104Ter", "hgvsWellDefined": "ENSP00000301948.6:p.Trp104_Ser486delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255311" }, { "coordinates": [ { "allele": "A", "end": 637, "referenceAllele": "G", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000369957.5:c.*365G>A" ], "proteinEffect": { "hgvs": "ENSP00000358973.4:n.*365G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS267791" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000407218.5:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000384865.2:p.Trp116Ter", "hgvsWellDefined": "ENSP00000384865.2:p.Trp116_Arg184delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysLeuGlnGluLeuAlaGluAlaGlyAspAlaProLysGlyAlaAlaProArgAspProArgArgProArgGlnArgValCysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280863" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000453960.6:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000395535.2:p.Trp116Ter", "hgvsWellDefined": "ENSP00000395535.2:p.Trp116_Ser498delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302351" }, { "coordinates": [ { "allele": "A", "end": 2659, "referenceAllele": "G", "start": 2658 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000486506.5:n.2659G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325304" }, { "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "G", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000611468.1:c.299G>A" ], "proteinEffect": { "hgvs": "ENSP00000479736.1:p.Trp100Ter", "hgvsWellDefined": "ENSP00000479736.1:p.Trp100_Thr168delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGluProLeuProAlaArgAlaGluThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400858" }, { "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000619732.4:c.311G>A" ], "proteinEffect": { "hgvs": "ENSP00000480973.1:p.Trp104Ter", "hgvsWellDefined": "ENSP00000480973.1:p.Trp104_Gly509delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluLeuAlaAspPheThrArgSerGlyLeuGlnSerLysProThrArgIleLysAlaAlaValValSerSerProTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404497" }, { "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "G", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000622433.4:c.299G>A" ], "proteinEffect": { "hgvs": "ENSP00000484470.1:p.Trp100Ter", "hgvsWellDefined": "ENSP00000484470.1:p.Trp100_Arg324delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluPheTyrProIleCysAlaGlyAspArgThrProHisGlnGluAlaGlnAspProGlyAspGlyGlnHisArgGlyGlnGlySerGlyGluAlaProAlaGlyValHisProArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405724" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "G", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000628176.2:c.311G>A" ], "proteinEffect": { "hgvs": "ENSP00000486978.1:p.Trp104Ter", "hgvsWellDefined": "ENSP00000486978.1:p.Trp104_Arg172delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysLeuGlnGluLeuAlaGluAlaGlyAspAlaProLysGlyAlaAlaProArgAspProArgArgProArgGlnArgValCysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407005" }, { "@id": "http://reg.genome.network/allele/PA270342", "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "G", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001110792.1:c.347G>A" ], "proteinEffect": { "hgvs": "NP_001104262.1:p.Trp116Ter", "hgvsWellDefined": "NP_001104262.1:p.Trp116_Ser498delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011171" }, { "@id": "http://reg.genome.network/allele/PA2826955533", "coordinates": [ { "allele": "A", "end": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001316337.1:c.32G>A" ], "proteinEffect": { "hgvs": "NP_001303266.1:p.Trp11Ter", "hgvsWellDefined": "NP_001303266.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026582" }, { "@id": "http://reg.genome.network/allele/PA270341", "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_004992.3:c.311G>A" ], "proteinEffect": { "hgvs": "NP_004983.1:p.Trp104Ter", "hgvsWellDefined": "NP_004983.1:p.Trp104_Ser486delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030122" }, { "coordinates": [ { "allele": "A", "end": 566, "referenceAllele": "G", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_005274681.3:c.311G>A" ], "proteinEffect": { "hgvs": "XP_005274738.1:p.Trp104Ter", "hgvsWellDefined": "XP_005274738.1:p.Trp104_Ser486delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068037" }, { "coordinates": [ { "allele": "A", "end": 605, "referenceAllele": "G", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_005274682.3:c.32G>A" ], "proteinEffect": { "hgvs": "XP_005274739.1:p.Trp11Ter", "hgvsWellDefined": "XP_005274739.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068038" }, { "coordinates": [ { "allele": "A", "end": 823, "referenceAllele": "G", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_005274683.3:c.32G>A" ], "proteinEffect": { "hgvs": "XP_005274740.1:p.Trp11Ter", "hgvsWellDefined": "XP_005274740.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068039" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "G", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_011531166.1:c.32G>A" ], "proteinEffect": { "hgvs": "XP_011529468.1:p.Trp11Ter", "hgvsWellDefined": "XP_011529468.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098206" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "G", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_006724819.3:c.-250G>A" ], "proteinEffect": { "hgvs": "XP_006724882.1:n.-250G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS541076" }, { "coordinates": [ { "allele": "A", "end": 424, "referenceAllele": "G", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_011531166.2:c.32G>A" ], "proteinEffect": { "hgvs": "XP_011529468.1:p.Trp11Ter", "hgvsWellDefined": "XP_011529468.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550259" }, { "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "G", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_024452383.1:c.32G>A" ], "proteinEffect": { "hgvs": "XP_024308151.1:p.Trp11Ter", "hgvsWellDefined": "XP_024308151.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585878" }, { "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_024452384.1:c.32G>A" ], "proteinEffect": { "hgvs": "XP_024308152.1:p.Trp11Ter", "hgvsWellDefined": "XP_024308152.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585879" }, { "@id": "http://reg.genome.network/allele/PA270342", "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001110792.2:c.347G>A" ], "proteinEffect": { "hgvs": "NP_001104262.1:p.Trp116Ter", "hgvsWellDefined": "NP_001104262.1:p.Trp116_Ser498delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676663", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453960.7:c.347G>A" }, "RefSeq": { "hgvs": "NM_001110792.2:c.347G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395535.2:p.Trp116Ter" }, "RefSeq": { "hgvs": "NP_001104262.1:p.Trp116Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826955533", "coordinates": [ { "allele": "A", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001316337.2:c.32G>A" ], "proteinEffect": { "hgvs": "NP_001303266.1:p.Trp11Ter", "hgvsWellDefined": "NP_001303266.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684168" }, { "@id": "http://reg.genome.network/allele/PA2828325012", "coordinates": [ { "allele": "A", "end": 986, "referenceAllele": "G", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369391.2:c.32G>A" ], "proteinEffect": { "hgvs": "NP_001356320.1:p.Trp11Ter", "hgvsWellDefined": "NP_001356320.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691616" }, { "@id": "http://reg.genome.network/allele/PA2828325878", "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "G", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369392.2:c.32G>A" ], "proteinEffect": { "hgvs": "NP_001356321.1:p.Trp11Ter", "hgvsWellDefined": "NP_001356321.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691617" }, { "@id": "http://reg.genome.network/allele/PA2828326747", "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369393.2:c.32G>A" ], "proteinEffect": { "hgvs": "NP_001356322.1:p.Trp11Ter", "hgvsWellDefined": "NP_001356322.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691618" }, { "@id": "http://reg.genome.network/allele/PA916047726", "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369394.1:c.32G>A" ], "proteinEffect": { "hgvs": "NP_001356323.1:p.Trp11Ter", "hgvsWellDefined": "NP_001356323.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691619" }, { "@id": "http://reg.genome.network/allele/PA916047726", "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369394.2:c.32G>A" ], "proteinEffect": { "hgvs": "NP_001356323.1:p.Trp11Ter", "hgvsWellDefined": "NP_001356323.1:p.Trp11_Ser393delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721143" }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "G", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001386137.1:c.-250G>A" ], "proteinEffect": { "hgvs": "NP_001373066.1:n.-250G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724415" }, { "coordinates": [ { "allele": "A", "end": 523, "referenceAllele": "G", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001386138.1:c.-250G>A" ], "proteinEffect": { "hgvs": "NP_001373067.1:n.-250G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724416" }, { "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001386139.1:c.-250G>A" ], "proteinEffect": { "hgvs": "NP_001373068.1:n.-250G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724417" }, { "@id": "http://reg.genome.network/allele/PA270341", "coordinates": [ { "allele": "A", "end": 523, "referenceAllele": "G", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_004992.4:c.311G>A" ], "proteinEffect": { "hgvs": "NP_004983.1:p.Trp104Ter", "hgvsWellDefined": "NP_004983.1:p.Trp104_Ser486delinsThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303391.11:c.311G>A" }, "RefSeq": { "hgvs": "NM_004992.4:c.311G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301948.6:p.Trp104Ter" }, "RefSeq": { "hgvs": "NP_004983.1:p.Trp104Ter" } } } } ], "type": "nucleotide" }