{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA408977698", "communityStandardTitle": [ "NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=973002[alleleid]", "alleleId": 973002, "preferredName": "NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984842", "RCV": [ "RCV001265358" ], "variationId": 984842 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.49510767G>A?assembly=hg19", "id": "chr20:g.49510767G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.50894230G>A?assembly=hg38", "id": "chr20:g.50894230G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1981147033", "rs": 1981147033 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 50894230, "referenceAllele": "G", "start": 50894229 } ], "hgvs": [ "NC_000020.11:g.50894230G>A", "CM000682.2:g.50894230G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 49510767, "referenceAllele": "G", "start": 49510766 } ], "hgvs": [ "NC_000020.10:g.49510767G>A", "CM000682.1:g.49510767G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 48944174, "referenceAllele": "G", "start": 48944173 } ], "hgvs": [ "NC_000020.9:g.48944174G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 41761, "referenceAllele": "C", "start": 41760 } ], "hgvs": [ "NG_034200.1:g.41761C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005799" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000349014.8:c.484C>T" ], "proteinEffect": { "hgvs": "ENSP00000342905.3:p.Gln162Ter", "hgvsWellDefined": "ENSP00000342905.3:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748388" }, { "coordinates": [ { "allele": "T", "end": 2046, "referenceAllele": "C", "start": 2045 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000371602.9:c.484C>T" ], "proteinEffect": { "hgvs": "ENSP00000360662.2:p.Gln162Ter", "hgvsWellDefined": "ENSP00000360662.2:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750822" }, { "coordinates": [ { "allele": "T", "end": 1214, "referenceAllele": "C", "start": 1213 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396029.8:c.484C>T" ], "proteinEffect": { "hgvs": "ENSP00000379346.3:p.Gln162Ter", "hgvsWellDefined": "ENSP00000379346.3:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753471" }, { "coordinates": [ { "allele": "T", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396032.8:c.484C>T" ], "proteinEffect": { "hgvs": "ENSP00000379349.2:p.Gln162Ter", "hgvsWellDefined": "ENSP00000379349.2:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753472" }, { "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "C", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000621696.5:c.484C>T" ], "proteinEffect": { "hgvs": "ENSP00000483881.1:p.Gln162Ter", "hgvsWellDefined": "ENSP00000483881.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762339", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000621696.5:c.484C>T" }, "RefSeq": { "hgvs": "NM_001282531.3:c.484C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483881.1:p.Gln162Ter" }, "RefSeq": { "hgvs": "NP_001269460.1:p.Gln162Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000642364.1:n.461C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766701" }, { "coordinates": [ { "allele": "T", "end": 288, "endIntronDirection": "-", "endIntronOffset": 4272, "referenceAllele": "C", "start": 288, "startIntronDirection": "-", "startIntronOffset": 4273 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000644386.1:c.202-4273C>T" ], "proteinEffect": { "hgvs": "ENSP00000493755.1:n.202-4273C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767793" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000645081.1:c.-201C>T" ], "proteinEffect": { "hgvs": "ENSP00000495540.1:n.-201C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768162" }, { "coordinates": [ { "allele": "T", "end": 1319, "referenceAllele": "C", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000673732.1:c.700C>T" ], "proteinEffect": { "hgvs": "ENSP00000501294.1:p.Gln234Ter", "hgvsWellDefined": "ENSP00000501294.1:p.Gln234_Ala1174delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773824" }, { "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000349014.7:c.484C>T" ], "proteinEffect": { "hgvs": "ENSP00000342905.3:p.Gln162Ter", "hgvsWellDefined": "ENSP00000342905.3:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262540" }, { "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000371602.8:c.484C>T" ], "proteinEffect": { "hgvs": "ENSP00000360662.2:p.Gln162Ter", "hgvsWellDefined": "ENSP00000360662.2:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268664" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396029.7:c.484C>T" ], "proteinEffect": { "hgvs": "ENSP00000379346.3:p.Gln162Ter", "hgvsWellDefined": "ENSP00000379346.3:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277050" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396032.7:c.484C>T" ], "proteinEffect": { "hgvs": "ENSP00000379349.2:p.Gln162Ter", "hgvsWellDefined": "ENSP00000379349.2:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277051" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000534467.1:c.484C>T" ], "proteinEffect": { "hgvs": "ENSP00000436181.1:p.Gln162Ter", "hgvsWellDefined": "ENSP00000436181.1:p.Gln162_Arg173del" }, "referenceSequence": "http://reg.genome.network/refseq/RS359077" }, { "coordinates": [ { "allele": "T", "end": 913, "referenceAllele": "C", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000621696.4:c.484C>T" ], "proteinEffect": { "hgvs": "ENSP00000483881.1:p.Gln162Ter", "hgvsWellDefined": "ENSP00000483881.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405390" }, { "@id": "http://reg.genome.network/allele/PA2826649015", "coordinates": [ { "allele": "T", "end": 913, "referenceAllele": "C", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.1:c.484C>T" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Gln162Ter", "hgvsWellDefined": "NP_001269460.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022018" }, { "@id": "http://reg.genome.network/allele/PA2826649545", "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282532.1:c.484C>T" ], "proteinEffect": { "hgvs": "NP_001269461.1:p.Gln162Ter", "hgvsWellDefined": "NP_001269461.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022019" }, { "@id": "http://reg.genome.network/allele/PA2829813450", "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.3:c.484C>T" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Gln162Ter", "hgvsWellDefined": "NP_056154.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033939" }, { "@id": "http://reg.genome.network/allele/PA1139765088", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.2:c.484C>T" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Gln162Ter", "hgvsWellDefined": "NP_852107.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043705" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528747.1:c.484C>T" ], "proteinEffect": { "hgvs": "XP_011527049.1:p.Gln162Ter", "hgvsWellDefined": "XP_011527049.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095818" }, { "coordinates": [ { "allele": "T", "end": 579, "referenceAllele": "C", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528748.1:c.511C>T" ], "proteinEffect": { "hgvs": "XP_011527050.1:p.Gln171Ter", "hgvsWellDefined": "XP_011527050.1:p.Gln171_Ala1111delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095819" }, { "@id": "http://reg.genome.network/allele/PA2826649015", "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.2:c.484C>T" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Gln162Ter", "hgvsWellDefined": "NP_001269460.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512105" }, { "@id": "http://reg.genome.network/allele/PA2827399977", "coordinates": [ { "allele": "T", "end": 961, "referenceAllele": "C", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001347511.1:c.484C>T" ], "proteinEffect": { "hgvs": "NP_001334440.1:p.Gln162Ter", "hgvsWellDefined": "NP_001334440.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517785" }, { "@id": "http://reg.genome.network/allele/PA2829813450", "coordinates": [ { "allele": "T", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.4:c.484C>T" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Gln162Ter", "hgvsWellDefined": "NP_056154.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525680" }, { "@id": "http://reg.genome.network/allele/PA1139765088", "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.3:c.484C>T" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Gln162Ter", "hgvsWellDefined": "NP_852107.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526858" }, { "coordinates": [ { "allele": "T", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528747.2:c.484C>T" ], "proteinEffect": { "hgvs": "XP_011527049.1:p.Gln162Ter", "hgvsWellDefined": "XP_011527049.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549238" }, { "coordinates": [ { "allele": "T", "end": 563, "referenceAllele": "C", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528748.2:c.511C>T" ], "proteinEffect": { "hgvs": "XP_011527050.1:p.Gln171Ter", "hgvsWellDefined": "XP_011527050.1:p.Gln171_Ala1111delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549239" }, { "coordinates": [ { "allele": "T", "end": 1719, "referenceAllele": "C", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_017027758.1:c.484C>T" ], "proteinEffect": { "hgvs": "XP_016883247.1:p.Gln162Ter", "hgvsWellDefined": "XP_016883247.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577654" }, { "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_017027759.1:c.484C>T" ], "proteinEffect": { "hgvs": "XP_016883248.1:p.Gln162Ter", "hgvsWellDefined": "XP_016883248.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577655" }, { "@id": "http://reg.genome.network/allele/PA2826649015", "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "C", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.3:c.484C>T" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Gln162Ter", "hgvsWellDefined": "NP_001269460.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664204", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000621696.5:c.484C>T" }, "RefSeq": { "hgvs": "NM_001282531.3:c.484C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483881.1:p.Gln162Ter" }, "RefSeq": { "hgvs": "NP_001269460.1:p.Gln162Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827399977", "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "C", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001347511.2:c.484C>T" ], "proteinEffect": { "hgvs": "NP_001334440.1:p.Gln162Ter", "hgvsWellDefined": "NP_001334440.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687470" }, { "@id": "http://reg.genome.network/allele/PA2829813450", "coordinates": [ { "allele": "T", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.5:c.484C>T" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Gln162Ter", "hgvsWellDefined": "NP_056154.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697515" }, { "@id": "http://reg.genome.network/allele/PA1139765088", "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "C", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.4:c.484C>T" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Gln162Ter", "hgvsWellDefined": "NP_852107.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700943" }, { "@id": "http://reg.genome.network/allele/PA2826649545", "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282532.2:c.484C>T" ], "proteinEffect": { "hgvs": "NP_001269461.1:p.Gln162Ter", "hgvsWellDefined": "NP_001269461.1:p.Gln162_Ala1102delinsAlaValTyrTyrCysLysLysCysThrTyrArgAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715832" } ], "type": "nucleotide" }