{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA408973839", "communityStandardTitle": [ "NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=512463[alleleid]", "alleleId": 512463, "preferredName": "NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/521765", "RCV": [ "RCV000623945", "RCV002506518" ], "variationId": 521765 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.49509914C>T?assembly=hg19", "id": "chr20:g.49509914C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.50893377C>T?assembly=hg38", "id": "chr20:g.50893377C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555810308", "rs": 1555810308 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753472" }, { "coordinates": [ { "allele": "A", "end": 2213, "referenceAllele": "G", "start": 2212 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000621696.5:c.1337G>A" ], "proteinEffect": { "hgvs": "ENSP00000483881.1:p.Trp446Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS762339", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000621696.5:c.1337G>A" }, "RefSeq": { "hgvs": "NM_001282531.3:c.1337G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483881.1:p.Trp446Ter" }, "RefSeq": { "hgvs": "NP_001269460.1:p.Trp446Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 288, "endIntronDirection": "-", "endIntronOffset": 3419, "referenceAllele": "G", "start": 288, "startIntronDirection": "-", "startIntronOffset": 3420 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000644386.1:c.202-3420G>A" ], "proteinEffect": { "hgvs": "ENSP00000493755.1:n.202-3420G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767793" }, { "coordinates": [ { "allele": "A", "end": 1768, "referenceAllele": "G", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN015766", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS768162" }, { "coordinates": [ { "allele": "A", "end": 2172, "referenceAllele": "G", "start": 2171 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000673732.1:c.1553G>A" ], "proteinEffect": { "hgvs": "ENSP00000501294.1:p.Trp518Ter", "hgvsWellDefined": "ENSP00000501294.1:p.Trp518_Ala1174delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773824" }, { "coordinates": [ { "allele": "A", "end": 1634, "referenceAllele": "G", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000349014.7:c.1337G>A" ], "proteinEffect": { "hgvs": "ENSP00000342905.3:p.Trp446Ter", "hgvsWellDefined": "ENSP00000342905.3:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262540" }, { "coordinates": [ { "allele": "A", "end": 1657, "referenceAllele": "G", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000371602.8:c.1337G>A" ], "proteinEffect": { "hgvs": "ENSP00000360662.2:p.Trp446Ter", "hgvsWellDefined": "ENSP00000360662.2:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268664" }, { "coordinates": [ { "allele": "A", "end": 1932, "referenceAllele": "G", "start": 1931 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396029.7:c.1337G>A" ], "proteinEffect": { "hgvs": "ENSP00000379346.3:p.Trp446Ter", "hgvsWellDefined": "ENSP00000379346.3:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277050" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396032.7:c.1337G>A" ], "proteinEffect": { "hgvs": "ENSP00000379349.2:p.Trp446Ter", "hgvsWellDefined": "ENSP00000379349.2:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277051" }, { "coordinates": [ { "allele": "A", "end": 1766, "referenceAllele": "G", "start": 1765 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000621696.4:c.1337G>A" ], "proteinEffect": { "hgvs": "ENSP00000483881.1:p.Trp446Ter", "hgvsWellDefined": "ENSP00000483881.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405390" }, { "@id": "http://reg.genome.network/allele/PA2826649158", "coordinates": [ { "allele": "A", "end": 1766, "referenceAllele": "G", "start": 1765 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.1:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Trp446Ter", "hgvsWellDefined": "NP_001269460.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022018" }, { "@id": "http://reg.genome.network/allele/PA2826649692", "coordinates": [ { "allele": "A", "end": 1634, "referenceAllele": "G", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282532.1:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_001269461.1:p.Trp446Ter", "hgvsWellDefined": "NP_001269461.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022019" }, { "@id": "http://reg.genome.network/allele/PA658812598", "coordinates": [ { "allele": "A", "end": 1682, "referenceAllele": "G", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.3:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Trp446Ter", "hgvsWellDefined": "NP_056154.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033939" }, { "@id": "http://reg.genome.network/allele/PA916077271", "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.2:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Trp446Ter", "hgvsWellDefined": "NP_852107.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043705" }, { "coordinates": [ { "allele": "A", "end": 1365, "referenceAllele": "G", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528747.1:c.1337G>A" ], "proteinEffect": { "hgvs": "XP_011527049.1:p.Trp446Ter", "hgvsWellDefined": "XP_011527049.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095818" }, { "coordinates": [ { "allele": "A", "end": 1432, "referenceAllele": "G", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528748.1:c.1364G>A" ], "proteinEffect": { "hgvs": "XP_011527050.1:p.Trp455Ter", "hgvsWellDefined": "XP_011527050.1:p.Trp455_Ala1111delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095819" }, { "@id": "http://reg.genome.network/allele/PA2826649158", "coordinates": [ { "allele": "A", "end": 1989, "referenceAllele": "G", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.2:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Trp446Ter", "hgvsWellDefined": "NP_001269460.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512105" }, { "@id": "http://reg.genome.network/allele/PA2827400123", "coordinates": [ { "allele": "A", "end": 1814, "referenceAllele": "G", "start": 1813 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001347511.1:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_001334440.1:p.Trp446Ter", "hgvsWellDefined": "NP_001334440.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517785" }, { "@id": "http://reg.genome.network/allele/PA658812598", "coordinates": [ { "allele": "A", "end": 1905, "referenceAllele": "G", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.4:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Trp446Ter", "hgvsWellDefined": "NP_056154.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525680" }, { "@id": "http://reg.genome.network/allele/PA916077271", "coordinates": [ { "allele": "A", "end": 1730, "referenceAllele": "G", "start": 1729 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.3:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Trp446Ter", "hgvsWellDefined": "NP_852107.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526858" }, { "coordinates": [ { "allele": "A", "end": 1859, "referenceAllele": "G", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528747.2:c.1337G>A" ], "proteinEffect": { "hgvs": "XP_011527049.1:p.Trp446Ter", "hgvsWellDefined": "XP_011527049.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549238" }, { "coordinates": [ { "allele": "A", "end": 1416, "referenceAllele": "G", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528748.2:c.1364G>A" ], "proteinEffect": { "hgvs": "XP_011527050.1:p.Trp455Ter", "hgvsWellDefined": "XP_011527050.1:p.Trp455_Ala1111delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549239" }, { "coordinates": [ { "allele": "A", "end": 2572, "referenceAllele": "G", "start": 2571 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_017027758.1:c.1337G>A" ], "proteinEffect": { "hgvs": "XP_016883247.1:p.Trp446Ter", "hgvsWellDefined": "XP_016883247.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577654" }, { "coordinates": [ { "allele": "A", "end": 1442, "referenceAllele": "G", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_017027759.1:c.1337G>A" ], "proteinEffect": { "hgvs": "XP_016883248.1:p.Trp446Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS577655" }, { "@id": "http://reg.genome.network/allele/PA2826649158", "coordinates": [ { "allele": "A", "end": 2213, "referenceAllele": "G", "start": 2212 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.3:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Trp446Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS664204", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000621696.5:c.1337G>A" }, "RefSeq": { "hgvs": "NM_001282531.3:c.1337G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483881.1:p.Trp446Ter" }, "RefSeq": { "hgvs": "NP_001269460.1:p.Trp446Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827400123", "coordinates": [ { "allele": "A", "end": 2038, "referenceAllele": "G", "start": 2037 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001347511.2:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_001334440.1:p.Trp446Ter", "hgvsWellDefined": "NP_001334440.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687470" }, { "@id": "http://reg.genome.network/allele/PA658812598", "coordinates": [ { "allele": "A", "end": 2129, "referenceAllele": "G", "start": 2128 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.5:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Trp446Ter", "hgvsWellDefined": "NP_056154.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697515" }, { "@id": "http://reg.genome.network/allele/PA916077271", "coordinates": [ { "allele": "A", "end": 1954, "referenceAllele": "G", "start": 1953 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.4:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Trp446Ter", "hgvsWellDefined": "NP_852107.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700943" }, { "@id": "http://reg.genome.network/allele/PA2826649692", "coordinates": [ { "allele": "A", "end": 1634, "referenceAllele": "G", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282532.2:c.1337G>A" ], "proteinEffect": { "hgvs": "NP_001269461.1:p.Trp446Ter", "hgvsWellDefined": "NP_001269461.1:p.Trp446_Ala1102delinsLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715832" } ], "type": "nucleotide" }