{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA270320", "communityStandardTitle": [ "NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153251[alleleid]", "alleleId": 153251, "preferredName": "NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143519", "RCV": [ "RCV000133050" ], "variationId": 143519 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.153298007C>A?assembly=hg19", "id": "chrX:g.153298007C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.154032556C>A?assembly=hg38", "id": "chrX:g.154032556C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/61754421", "rs": 61754421 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 154032556, "referenceAllele": "C", "start": 154032555 } ], "hgvs": [ "NC_000023.11:g.154032556C>A", "CM000685.2:g.154032556C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 153298007, "referenceAllele": "C", "start": 153298006 } ], "hgvs": [ "NC_000023.10:g.153298007C>A", "CM000685.1:g.153298007C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 152951201, "referenceAllele": "C", "start": 152951200 } ], "hgvs": [ "NC_000023.9:g.152951201C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 109572, "referenceAllele": "G", "start": 109571 } ], "hgvs": [ "NG_007107.2:g.109572G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000484" }, { "coordinates": [ { "allele": "T", "end": 109548, "referenceAllele": "G", "start": 109547 } ], "hgvs": [ "NG_007107.3:g.109548G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS733307" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 136, "referenceAllele": "G", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000700484.1:n.136G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911244" }, { "coordinates": [ { "allele": "T", "end": 240, "referenceAllele": "G", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000303391.11:c.28G>T" ], "proteinEffect": { "hgvs": "ENSP00000301948.6:p.Glu10Ter", "hgvsWellDefined": "ENSP00000301948.6:p.Glu11_Ser486delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745028", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303391.11:c.28G>T" }, "RefSeq": { "hgvs": "NM_004992.4:c.28G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301948.6:p.Glu10Ter" }, "RefSeq": { "hgvs": "NP_004983.1:p.Glu10Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000453960.7:c.64G>T" ], "proteinEffect": { "hgvs": "ENSP00000395535.2:p.Glu22Ter", "hgvsWellDefined": "ENSP00000395535.2:p.Glu23_Ser498delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756448", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453960.7:c.64G>T" }, "RefSeq": { "hgvs": "NM_001110792.2:c.64G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395535.2:p.Glu22Ter" }, "RefSeq": { "hgvs": "NP_001104262.1:p.Glu22Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000611468.2:n.276G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS761832" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "G", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000630151.2:c.28G>T" ], "proteinEffect": { "hgvs": "ENSP00000486089.1:p.Glu10Ter", "hgvsWellDefined": "ENSP00000486089.1:p.Glu10Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS762534" }, { "coordinates": [ { "allele": "T", "end": 59, "referenceAllele": "G", "start": 58 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000637533.1:n.59G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763927" }, { "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000675526.1:c.*421G>T" ], "proteinEffect": { "hgvs": "ENSP00000501710.1:n.*421G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775333" }, { "coordinates": [ { "allele": "T", "end": 221, "referenceAllele": "G", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000676382.1:n.221G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776072" }, { "coordinates": [ { "allele": "T", "end": 278, "referenceAllele": "G", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000303391.10:c.28G>T" ], "proteinEffect": { "hgvs": "ENSP00000301948.6:p.Glu10Ter", "hgvsWellDefined": "ENSP00000301948.6:p.Glu11_Ser486delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255311" }, { "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "G", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000369957.5:c.*82G>T" ], "proteinEffect": { "hgvs": "ENSP00000358973.4:n.*82G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS267791" }, { "coordinates": [ { "allele": "T", "end": 88, "referenceAllele": "G", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000407218.5:c.64G>T" ], "proteinEffect": { "hgvs": "ENSP00000384865.2:p.Glu22Ter", "hgvsWellDefined": "ENSP00000384865.2:p.Glu23_Arg184delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysLeuGlnGluLeuAlaGluAlaGlyAspAlaProLysGlyAlaAlaProArgAspProArgArgProArgGlnArgValCysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280863" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "G", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000415944.3:c.28G>T" ], "proteinEffect": { "hgvs": "ENSP00000416267.1:p.Glu10Ter", "hgvsWellDefined": "ENSP00000416267.1:p.Glu10_Ala50del" }, "referenceSequence": "http://reg.genome.network/refseq/RS284231" }, { "coordinates": [ { "allele": "T", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000453960.6:c.64G>T" ], "proteinEffect": { "hgvs": "ENSP00000395535.2:p.Glu22Ter", "hgvsWellDefined": "ENSP00000395535.2:p.Glu23_Ser498delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302351" }, { "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "G", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000460227.4:n.1177G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS305011" }, { "coordinates": [ { "allele": "T", "end": 967, "referenceAllele": "G", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000463644.5:n.967G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307636" }, { "coordinates": [ { "allele": "T", "end": 314, "referenceAllele": "G", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000481807.3:n.314G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321648" }, { "coordinates": [ { "allele": "T", "end": 2376, "referenceAllele": "G", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000486506.5:n.2376G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS325304" }, { "coordinates": [ { "allele": "T", "end": 1077, "referenceAllele": "G", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000488293.4:n.1077G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS326632" }, { "coordinates": [ { "allele": "T", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000496908.5:n.159G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS333273" }, { "coordinates": [ { "allele": "T", "end": 112, "referenceAllele": "G", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000611468.1:c.16G>T" ], "proteinEffect": { "hgvs": "ENSP00000479736.1:p.Glu6Ter", "hgvsWellDefined": "ENSP00000479736.1:p.Glu7_Thr168delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGluProLeuProAlaArgAlaGluThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400858" }, { "coordinates": [ { "allele": "T", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000619732.4:c.28G>T" ], "proteinEffect": { "hgvs": "ENSP00000480973.1:p.Glu10Ter", "hgvsWellDefined": "ENSP00000480973.1:p.Glu11_Gly509delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluLeuAlaAspPheThrArgSerGlyLeuGlnSerLysProThrArgIleLysAlaAlaValValSerSerProTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404497" }, { "coordinates": [ { "allele": "T", "end": 112, "referenceAllele": "G", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000622433.4:c.16G>T" ], "proteinEffect": { "hgvs": "ENSP00000484470.1:p.Glu6Ter", "hgvsWellDefined": "ENSP00000484470.1:p.Glu7_Arg324delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluPheTyrProIleCysAlaGlyAspArgThrProHisGlnGluAlaGlnAspProGlyAspGlyGlnHisArgGlyGlnGlySerGlyGluAlaProAlaGlyValHisProArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405724" }, { "coordinates": [ { "allele": "T", "end": 253, "referenceAllele": "G", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000625300.1:n.253G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406562" }, { "coordinates": [ { "allele": "T", "end": 738, "referenceAllele": "G", "start": 737 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000626422.2:n.738G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406737" }, { "coordinates": [ { "allele": "T", "end": 260, "referenceAllele": "G", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000628176.2:c.28G>T" ], "proteinEffect": { "hgvs": "ENSP00000486978.1:p.Glu10Ter", "hgvsWellDefined": "ENSP00000486978.1:p.Glu11_Arg172delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysLeuGlnGluLeuAlaGluAlaGlyAspAlaProLysGlyAlaAlaProArgAspProArgArgProArgGlnArgValCysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407005" }, { "coordinates": [ { "allele": "T", "end": 164, "referenceAllele": "G", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000630151.1:c.28G>T" ], "proteinEffect": { "hgvs": "ENSP00000486089.1:p.Glu10Ter", "hgvsWellDefined": "ENSP00000486089.1:p.Glu10Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS407329" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "ENST00000631210.1:n.307G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS407490" }, { "@id": "http://reg.genome.network/allele/PA270322", "coordinates": [ { "allele": "T", "end": 130, "referenceAllele": "G", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001110792.1:c.64G>T" ], "proteinEffect": { "hgvs": "NP_001104262.1:p.Glu22Ter", "hgvsWellDefined": "NP_001104262.1:p.Glu23_Ser498delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011171" }, { "coordinates": [ { "allele": "T", "end": 422, "referenceAllele": "G", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001316337.1:c.-252G>T" ], "proteinEffect": { "hgvs": "NP_001303266.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS026582" }, { "@id": "http://reg.genome.network/allele/PA270321", "coordinates": [ { "allele": "T", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_004992.3:c.28G>T" ], "proteinEffect": { "hgvs": "NP_004983.1:p.Glu10Ter", "hgvsWellDefined": "NP_004983.1:p.Glu11_Ser486delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030122" }, { "coordinates": [ { "allele": "T", "end": 283, "referenceAllele": "G", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_005274681.3:c.28G>T" ], "proteinEffect": { "hgvs": "XP_005274738.1:p.Glu10Ter", "hgvsWellDefined": "XP_005274738.1:p.Glu11_Ser486delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068037" }, { "coordinates": [ { "allele": "T", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_005274682.3:c.-252G>T" ], "proteinEffect": { "hgvs": "XP_005274739.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS068038" }, { "coordinates": [ { "allele": "T", "end": 540, "referenceAllele": "G", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_005274683.3:c.-252G>T" ], "proteinEffect": { "hgvs": "XP_005274740.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS068039" }, { "coordinates": [ { "allele": "T", "end": 146, "referenceAllele": "G", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_011531166.1:c.-252G>T" ], "proteinEffect": { "hgvs": "XP_011529468.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS098206" }, { "coordinates": [ { "allele": "T", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_006724819.3:c.-533G>T" ], "proteinEffect": { "hgvs": "XP_006724882.1:n.-533G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS541076" }, { "coordinates": [ { "allele": "T", "end": 141, "referenceAllele": "G", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_011531166.2:c.-252G>T" ], "proteinEffect": { "hgvs": "XP_011529468.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS550259" }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "G", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_024452383.1:c.-252G>T" ], "proteinEffect": { "hgvs": "XP_024308151.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585878" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "G", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "XM_024452384.1:c.-252G>T" ], "proteinEffect": { "hgvs": "XP_024308152.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585879" }, { "@id": "http://reg.genome.network/allele/PA270322", "coordinates": [ { "allele": "T", "end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001110792.2:c.64G>T" ], "proteinEffect": { "hgvs": "NP_001104262.1:p.Glu22Ter", "hgvsWellDefined": "NP_001104262.1:p.Glu23_Ser498delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676663", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453960.7:c.64G>T" }, "RefSeq": { "hgvs": "NM_001110792.2:c.64G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395535.2:p.Glu22Ter" }, "RefSeq": { "hgvs": "NP_001104262.1:p.Glu22Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "G", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001316337.2:c.-252G>T" ], "proteinEffect": { "hgvs": "NP_001303266.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS684168" }, { "coordinates": [ { "allele": "T", "end": 703, "referenceAllele": "G", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369391.2:c.-252G>T" ], "proteinEffect": { "hgvs": "NP_001356320.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691616" }, { "coordinates": [ { "allele": "T", "end": 352, "referenceAllele": "G", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369392.2:c.-252G>T" ], "proteinEffect": { "hgvs": "NP_001356321.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691617" }, { "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "G", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369393.2:c.-252G>T" ], "proteinEffect": { "hgvs": "NP_001356322.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691618" }, { "coordinates": [ { "allele": "T", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369394.1:c.-252G>T" ], "proteinEffect": { "hgvs": "NP_001356323.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691619" }, { "coordinates": [ { "allele": "T", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001369394.2:c.-252G>T" ], "proteinEffect": { "hgvs": "NP_001356323.1:n.-252G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721143" }, { "coordinates": [ { "allele": "T", "end": 352, "referenceAllele": "G", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001386137.1:c.-533G>T" ], "proteinEffect": { "hgvs": "NP_001373066.1:n.-533G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS724415" }, { "coordinates": [ { "allele": "T", "end": 240, "referenceAllele": "G", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001386138.1:c.-533G>T" ], "proteinEffect": { "hgvs": "NP_001373067.1:n.-533G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS724416" }, { "coordinates": [ { "allele": "T", "end": 116, "referenceAllele": "G", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_001386139.1:c.-533G>T" ], "proteinEffect": { "hgvs": "NP_001373068.1:n.-533G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS724417" }, { "@id": "http://reg.genome.network/allele/PA270321", "coordinates": [ { "allele": "T", "end": 240, "referenceAllele": "G", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN006990", "geneNCBI_id": 4204, "geneSymbol": "MECP2", "hgvs": [ "NM_004992.4:c.28G>T" ], "proteinEffect": { "hgvs": "NP_004983.1:p.Glu10Ter", "hgvsWellDefined": "NP_004983.1:p.Glu11_Ser486delinsLysSerGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303391.11:c.28G>T" }, "RefSeq": { "hgvs": "NM_004992.4:c.28G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301948.6:p.Glu10Ter" }, "RefSeq": { "hgvs": "NP_004983.1:p.Glu10Ter" } } } } ], "type": "nucleotide" }