{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA202766", "communityStandardTitle": [ "NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101100[alleleid]", "alleleId": 101100, "preferredName": "NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95200", "RCV": [ "RCV000168689", "RCV000178228", "RCV001854431" ], "variationId": 95200 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.153296549G>A?assembly=hg19", "id": "chrX:g.153296549G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.154031098G>A?assembly=hg38", "id": "chrX:g.154031098G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/61749747", "rs": 61749747 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 154031098, "referenceAllele": "G", "start": 154031097 } ], "hgvs": [ "NC_000023.11:g.154031098G>A", "CM000685.2:g.154031098G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 153296549, "referenceAllele": "G", "start": 153296548 } ], "hgvs": [ "NC_000023.10:g.153296549G>A", "CM000685.1:g.153296549G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 152949743, "referenceAllele": "G", "start": 152949742 } ], "hgvs": [ "NC_000023.9:g.152949743G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 111030, "referenceAllele": "C", "start": 111029 } ], "hgvs": [ "NG_007107.2:g.111030C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000484" }, { "coordinates": [ { "allele": "T", "end": 111006, "referenceAllele": "C", "start": 111005 } ], "hgvs": [ "NG_007107.3:g.111006C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS733307" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 942, "referenceAllele": "C", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000303391.11:c.730C>T" ], "proteinEffect": { "hgvs": "ENSP00000301948.6:p.Gln244Ter", "hgvsWellDefined": "ENSP00000301948.6:p.Gln244_Ser486delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745028", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303391.11:c.730C>T" }, "RefSeq": { "hgvs": "NM_004992.4:c.730C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301948.6:p.Gln244Ter" }, "RefSeq": { "hgvs": "NP_004983.1:p.Gln244Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000453960.7:c.766C>T" ], "proteinEffect": { "hgvs": "ENSP00000395535.2:p.Gln256Ter", "hgvsWellDefined": "ENSP00000395535.2:p.Gln256_Ser498delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756448", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453960.7:c.766C>T" }, "RefSeq": { "hgvs": "NM_001110792.2:c.766C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395535.2:p.Gln256Ter" }, "RefSeq": { "hgvs": "NP_001104262.1:p.Gln256Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 65, "endIntronDirection": "-", "endIntronOffset": 161, "referenceAllele": "C", "start": 65, "startIntronDirection": "-", "startIntronOffset": 162 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000637917.1:c.66-162C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764207" }, { "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000303391.10:c.730C>T" ], "proteinEffect": { "hgvs": "ENSP00000301948.6:p.Gln244Ter", "hgvsWellDefined": "ENSP00000301948.6:p.Gln244_Ser486delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255311" }, { "coordinates": [ { "allele": "T", "end": 681, "referenceAllele": "C", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000407218.5:c.*102C>T" ], "proteinEffect": { "hgvs": "ENSP00000384865.2:n.*102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS280863" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "C", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000453960.6:c.766C>T" ], "proteinEffect": { "hgvs": "ENSP00000395535.2:p.Gln256Ter", "hgvsWellDefined": "ENSP00000395535.2:p.Gln256_Ser498delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302351" }, { "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000619732.4:c.730C>T" ], "proteinEffect": { "hgvs": "ENSP00000480973.1:p.Gln244Ter", "hgvsWellDefined": "ENSP00000480973.1:p.Gln244_Gly509delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluLeuAlaAspPheThrArgSerGlyLeuGlnSerLysProThrArgIleLysAlaAlaValValSerSerProTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404497" }, { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000622433.4:c.718C>T" ], "proteinEffect": { "hgvs": "ENSP00000484470.1:p.Gln240Ter", "hgvsWellDefined": "ENSP00000484470.1:p.Gln240_Arg324delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluPheTyrProIleCysAlaGlyAspArgThrProHisGlnGluAlaGlnAspProGlyAspGlyGlnHisArgGlyGlnGlySerGlyGluAlaProAlaGlyValHisProArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405724" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000628176.2:c.*102C>T" ], "proteinEffect": { "hgvs": "ENSP00000486978.1:n.*102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS407005" }, { "@id": "http://reg.genome.network/allele/PA202768", "coordinates": [ { "allele": "T", "end": 832, "referenceAllele": "C", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001110792.1:c.766C>T" ], "proteinEffect": { "hgvs": "NP_001104262.1:p.Gln256Ter", "hgvsWellDefined": "NP_001104262.1:p.Gln256_Ser498delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011171" }, { "@id": "http://reg.genome.network/allele/PA2826955816", "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "C", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001316337.1:c.451C>T" ], "proteinEffect": { "hgvs": "NP_001303266.1:p.Gln151Ter", "hgvsWellDefined": "NP_001303266.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026582" }, { "@id": "http://reg.genome.network/allele/PA202767", "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_004992.3:c.730C>T" ], "proteinEffect": { "hgvs": "NP_004983.1:p.Gln244Ter", "hgvsWellDefined": "NP_004983.1:p.Gln244_Ser486delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030122" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_005274681.3:c.730C>T" ], "proteinEffect": { "hgvs": "XP_005274738.1:p.Gln244Ter", "hgvsWellDefined": "XP_005274738.1:p.Gln244_Ser486delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068037" }, { "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_005274682.3:c.451C>T" ], "proteinEffect": { "hgvs": "XP_005274739.1:p.Gln151Ter", "hgvsWellDefined": "XP_005274739.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068038" }, { "coordinates": [ { "allele": "T", "end": 1242, "referenceAllele": "C", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_005274683.3:c.451C>T" ], "proteinEffect": { "hgvs": "XP_005274740.1:p.Gln151Ter", "hgvsWellDefined": "XP_005274740.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068039" }, { "coordinates": [ { "allele": "T", "end": 261, "referenceAllele": "C", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_006724819.2:c.61C>T" ], "proteinEffect": { "hgvs": "XP_006724882.1:p.Gln21Ter", "hgvsWellDefined": "XP_006724882.1:p.Gln21_Ser263delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075728" }, { "coordinates": [ { "allele": "T", "end": 848, "referenceAllele": "C", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_011531166.1:c.451C>T" ], "proteinEffect": { "hgvs": "XP_011529468.1:p.Gln151Ter", "hgvsWellDefined": "XP_011529468.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098206" }, { "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_006724819.3:c.61C>T" ], "proteinEffect": { "hgvs": "XP_006724882.1:p.Gln21Ter", "hgvsWellDefined": "XP_006724882.1:p.Gln21_Ser263delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541076" }, { "coordinates": [ { "allele": "T", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_011531166.2:c.451C>T" ], "proteinEffect": { "hgvs": "XP_011529468.1:p.Gln151Ter", "hgvsWellDefined": "XP_011529468.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550259" }, { "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "C", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_024452383.1:c.451C>T" ], "proteinEffect": { "hgvs": "XP_024308151.1:p.Gln151Ter", "hgvsWellDefined": "XP_024308151.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585878" }, { "coordinates": [ { "allele": "T", "end": 901, "referenceAllele": "C", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_024452384.1:c.451C>T" ], "proteinEffect": { "hgvs": "XP_024308152.1:p.Gln151Ter", "hgvsWellDefined": "XP_024308152.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585879" }, { "@id": "http://reg.genome.network/allele/PA202768", "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001110792.2:c.766C>T" ], "proteinEffect": { "hgvs": "NP_001104262.1:p.Gln256Ter", "hgvsWellDefined": "NP_001104262.1:p.Gln256_Ser498delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676663", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453960.7:c.766C>T" }, "RefSeq": { "hgvs": "NM_001110792.2:c.766C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395535.2:p.Gln256Ter" }, "RefSeq": { "hgvs": "NP_001104262.1:p.Gln256Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826955816", "coordinates": [ { "allele": "T", "end": 1110, "referenceAllele": "C", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001316337.2:c.451C>T" ], "proteinEffect": { "hgvs": "NP_001303266.1:p.Gln151Ter", "hgvsWellDefined": "NP_001303266.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684168" }, { "@id": "http://reg.genome.network/allele/PA2828325298", "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "C", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369391.2:c.451C>T" ], "proteinEffect": { "hgvs": "NP_001356320.1:p.Gln151Ter", "hgvsWellDefined": "NP_001356320.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691616" }, { "@id": "http://reg.genome.network/allele/PA2828326164", "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "C", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369392.2:c.451C>T" ], "proteinEffect": { "hgvs": "NP_001356321.1:p.Gln151Ter", "hgvsWellDefined": "NP_001356321.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691617" }, { "@id": "http://reg.genome.network/allele/PA2828327030", "coordinates": [ { "allele": "T", "end": 930, "referenceAllele": "C", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369393.2:c.451C>T" ], "proteinEffect": { "hgvs": "NP_001356322.1:p.Gln151Ter", "hgvsWellDefined": "NP_001356322.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691618" }, { "@id": "http://reg.genome.network/allele/PA2828327676", "coordinates": [ { "allele": "T", "end": 861, "referenceAllele": "C", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369394.1:c.451C>T" ], "proteinEffect": { "hgvs": "NP_001356323.1:p.Gln151Ter", "hgvsWellDefined": "NP_001356323.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691619" }, { "@id": "http://reg.genome.network/allele/PA2828327676", "coordinates": [ { "allele": "T", "end": 861, "referenceAllele": "C", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369394.2:c.451C>T" ], "proteinEffect": { "hgvs": "NP_001356323.1:p.Gln151Ter", "hgvsWellDefined": "NP_001356323.1:p.Gln151_Ser393delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721143" }, { "@id": "http://reg.genome.network/allele/PA2829068431", "coordinates": [ { "allele": "T", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001386137.1:c.61C>T" ], "proteinEffect": { "hgvs": "NP_001373066.1:p.Gln21Ter", "hgvsWellDefined": "NP_001373066.1:p.Gln21_Ser263delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724415" }, { "@id": "http://reg.genome.network/allele/PA2829069018", "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001386138.1:c.61C>T" ], "proteinEffect": { "hgvs": "NP_001373067.1:p.Gln21Ter", "hgvsWellDefined": "NP_001373067.1:p.Gln21_Ser263delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724416" }, { "@id": "http://reg.genome.network/allele/PA2829069588", "coordinates": [ { "allele": "T", "end": 709, "referenceAllele": "C", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001386139.1:c.61C>T" ], "proteinEffect": { "hgvs": "NP_001373068.1:p.Gln21Ter", "hgvsWellDefined": "NP_001373068.1:p.Gln21_Ser263delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724417" }, { "@id": "http://reg.genome.network/allele/PA202767", "coordinates": [ { "allele": "T", "end": 942, "referenceAllele": "C", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_004992.4:c.730C>T" ], "proteinEffect": { "hgvs": "NP_004983.1:p.Gln244Ter", "hgvsWellDefined": "NP_004983.1:p.Gln244_Ser486delinsValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303391.11:c.730C>T" }, "RefSeq": { "hgvs": "NM_004992.4:c.730C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301948.6:p.Gln244Ter" }, "RefSeq": { "hgvs": "NP_004983.1:p.Gln244Ter" } } } } ], "type": "nucleotide" }