{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA408977537", "communityStandardTitle": [ "NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=424673[alleleid]", "alleleId": 424673, "preferredName": "NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/431117", "RCV": [ "RCV000496157", "RCV001008669" ], "variationId": 431117 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.49510734G>A?assembly=hg19", "id": "chr20:g.49510734G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.50894197G>A?assembly=hg38", "id": "chr20:g.50894197G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1135401791", "rs": 1135401791 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 50894197, "referenceAllele": "G", "start": 50894196 } ], "hgvs": [ "NC_000020.11:g.50894197G>A", "CM000682.2:g.50894197G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 49510734, "referenceAllele": "G", "start": 49510733 } ], "hgvs": [ "NC_000020.10:g.49510734G>A", "CM000682.1:g.49510734G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 48944141, "referenceAllele": "G", "start": 48944140 } ], "hgvs": [ "NC_000020.9:g.48944141G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 41794, "referenceAllele": "C", "start": 41793 } ], "hgvs": [ "NG_034200.1:g.41794C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005799" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000349014.8:c.517C>T" ], "proteinEffect": { "hgvs": "ENSP00000342905.3:p.Arg173Ter", "hgvsWellDefined": "ENSP00000342905.3:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748388" }, { "coordinates": [ { "allele": "T", "end": 2079, "referenceAllele": "C", "start": 2078 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000371602.9:c.517C>T" ], "proteinEffect": { "hgvs": "ENSP00000360662.2:p.Arg173Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS750822" }, { "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396029.8:c.517C>T" ], "proteinEffect": { "hgvs": "ENSP00000379346.3:p.Arg173Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753471" }, { "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396032.8:c.517C>T" ], "proteinEffect": { "hgvs": "ENSP00000379349.2:p.Arg173Ter", "hgvsWellDefined": "ENSP00000379349.2:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753472" }, { "coordinates": [ { "allele": "T", "end": 1393, "referenceAllele": "C", "start": 1392 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000621696.5:c.517C>T" ], "proteinEffect": { "hgvs": "ENSP00000483881.1:p.Arg173Ter", "hgvsWellDefined": "ENSP00000483881.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762339", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000621696.5:c.517C>T" }, "RefSeq": { "hgvs": "NM_001282531.3:c.517C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483881.1:p.Arg173Ter" }, "RefSeq": { "hgvs": "NP_001269460.1:p.Arg173Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000642364.1:n.494C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766701" }, { "coordinates": [ { "allele": "T", "end": 288, "endIntronDirection": "-", "endIntronOffset": 4239, "referenceAllele": "C", "start": 288, "startIntronDirection": "-", "startIntronOffset": 4240 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000644386.1:c.202-4240C>T" ], "proteinEffect": { "hgvs": "ENSP00000493755.1:n.202-4240C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767793" }, { "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000645081.1:c.-168C>T" ], "proteinEffect": { "hgvs": "ENSP00000495540.1:n.-168C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768162" }, { "coordinates": [ { "allele": "T", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000673732.1:c.733C>T" ], "proteinEffect": { "hgvs": "ENSP00000501294.1:p.Arg245Ter", "hgvsWellDefined": "ENSP00000501294.1:p.Arg245_Ala1174delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773824" }, { "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000349014.7:c.517C>T" ], "proteinEffect": { "hgvs": "ENSP00000342905.3:p.Arg173Ter", "hgvsWellDefined": "ENSP00000342905.3:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262540" }, { "coordinates": [ { "allele": "T", "end": 837, "referenceAllele": "C", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000371602.8:c.517C>T" ], "proteinEffect": { "hgvs": "ENSP00000360662.2:p.Arg173Ter", "hgvsWellDefined": "ENSP00000360662.2:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268664" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "C", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396029.7:c.517C>T" ], "proteinEffect": { "hgvs": "ENSP00000379346.3:p.Arg173Ter", "hgvsWellDefined": "ENSP00000379346.3:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277050" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396032.7:c.517C>T" ], "proteinEffect": { "hgvs": "ENSP00000379349.2:p.Arg173Ter", "hgvsWellDefined": "ENSP00000379349.2:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277051" }, { "coordinates": [ { "allele": "T", "end": 772, "referenceAllele": "C", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000534467.1:c.517C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS359077" }, { "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000621696.4:c.517C>T" ], "proteinEffect": { "hgvs": "ENSP00000483881.1:p.Arg173Ter", "hgvsWellDefined": "ENSP00000483881.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405390" }, { "@id": "http://reg.genome.network/allele/PA2826649020", "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.1:c.517C>T" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Arg173Ter", "hgvsWellDefined": "NP_001269460.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022018" }, { "@id": "http://reg.genome.network/allele/PA2826649550", "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282532.1:c.517C>T" ], "proteinEffect": { "hgvs": "NP_001269461.1:p.Arg173Ter", "hgvsWellDefined": "NP_001269461.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022019" }, { "@id": "http://reg.genome.network/allele/PA645496084", "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.3:c.517C>T" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Arg173Ter", "hgvsWellDefined": "NP_056154.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033939" }, { "@id": "http://reg.genome.network/allele/PA916077248", "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.2:c.517C>T" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Arg173Ter", "hgvsWellDefined": "NP_852107.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043705" }, { "coordinates": [ { "allele": "T", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528747.1:c.517C>T" ], "proteinEffect": { "hgvs": "XP_011527049.1:p.Arg173Ter", "hgvsWellDefined": "XP_011527049.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095818" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528748.1:c.544C>T" ], "proteinEffect": { "hgvs": "XP_011527050.1:p.Arg182Ter", "hgvsWellDefined": "XP_011527050.1:p.Arg182_Ala1111delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095819" }, { "@id": "http://reg.genome.network/allele/PA2826649020", "coordinates": [ { "allele": "T", "end": 1169, "referenceAllele": "C", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.2:c.517C>T" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Arg173Ter", "hgvsWellDefined": "NP_001269460.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512105" }, { "@id": "http://reg.genome.network/allele/PA2827399981", "coordinates": [ { "allele": "T", "end": 994, "referenceAllele": "C", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001347511.1:c.517C>T" ], "proteinEffect": { "hgvs": "NP_001334440.1:p.Arg173Ter", "hgvsWellDefined": "NP_001334440.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517785" }, { "@id": "http://reg.genome.network/allele/PA645496084", "coordinates": [ { "allele": "T", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.4:c.517C>T" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Arg173Ter", "hgvsWellDefined": "NP_056154.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525680" }, { "@id": "http://reg.genome.network/allele/PA916077248", "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.3:c.517C>T" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Arg173Ter", "hgvsWellDefined": "NP_852107.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526858" }, { "coordinates": [ { "allele": "T", "end": 1039, "referenceAllele": "C", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528747.2:c.517C>T" ], "proteinEffect": { "hgvs": "XP_011527049.1:p.Arg173Ter", "hgvsWellDefined": "XP_011527049.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549238" }, { "coordinates": [ { "allele": "T", "end": 596, "referenceAllele": "C", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528748.2:c.544C>T" ], "proteinEffect": { "hgvs": "XP_011527050.1:p.Arg182Ter", "hgvsWellDefined": "XP_011527050.1:p.Arg182_Ala1111delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549239" }, { "coordinates": [ { "allele": "T", "end": 1752, "referenceAllele": "C", "start": 1751 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_017027758.1:c.517C>T" ], "proteinEffect": { "hgvs": "XP_016883247.1:p.Arg173Ter", "hgvsWellDefined": "XP_016883247.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577654" }, { "coordinates": [ { "allele": "T", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_017027759.1:c.517C>T" ], "proteinEffect": { "hgvs": "XP_016883248.1:p.Arg173Ter", "hgvsWellDefined": "XP_016883248.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577655" }, { "@id": "http://reg.genome.network/allele/PA2826649020", "coordinates": [ { "allele": "T", "end": 1393, "referenceAllele": "C", "start": 1392 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.3:c.517C>T" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Arg173Ter", "hgvsWellDefined": "NP_001269460.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664204", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000621696.5:c.517C>T" }, "RefSeq": { "hgvs": "NM_001282531.3:c.517C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483881.1:p.Arg173Ter" }, "RefSeq": { "hgvs": "NP_001269460.1:p.Arg173Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827399981", "coordinates": [ { "allele": "T", "end": 1218, "referenceAllele": "C", "start": 1217 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001347511.2:c.517C>T" ], "proteinEffect": { "hgvs": "NP_001334440.1:p.Arg173Ter", "hgvsWellDefined": "NP_001334440.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687470" }, { "@id": "http://reg.genome.network/allele/PA645496084", "coordinates": [ { "allele": "T", "end": 1309, "referenceAllele": "C", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.5:c.517C>T" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Arg173Ter", "hgvsWellDefined": "NP_056154.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697515" }, { "@id": "http://reg.genome.network/allele/PA916077248", "coordinates": [ { "allele": "T", "end": 1134, "referenceAllele": "C", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.4:c.517C>T" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Arg173Ter", "hgvsWellDefined": "NP_852107.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700943" }, { "@id": "http://reg.genome.network/allele/PA2826649550", "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282532.2:c.517C>T" ], "proteinEffect": { "hgvs": "NP_001269461.1:p.Arg173Ter", "hgvsWellDefined": "NP_001269461.1:p.Arg173_Ala1102delinsAspProLeuTyrGluIleValArgLysHisIleTyrArgGluHisPheGlnHisValAlaAlaProTyrIleAlaLysAlaGlyGluLysSerLeuAsnGlyAlaValProLeuGlySerAsnAlaArgGluGluSerSerIleHisCysLysArgCysLeuPheMetProLysSerTyrGluAlaLeuValGlnHisValIleGluAspHisGluArgIleGlyTyrGlnValThrAlaMetIleGlyHisThrAsnValValValProArgSerLysProLeuMetLeuIleAlaProLysProGlnAspLysLysSerMetGlyLeuProProArgIleGlySerLeuAlaSerGlyAsnValArgSerLeuProSerGlnGlnMetValAsnArgLeuSerIleProLysProAsnLeuAsnSerThrGlyValAsnMetMetSerSerValHisLeuGlnGlnAsnAsnTyrGlyValLysSerValGlyGlnGlyTyrSerValGlyGlnSerMetArgLeuGlyLeuGlyGlyAsnAlaProValSerIleProGlnGlnSerGlnSerValLysGlnLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715832" } ], "type": "nucleotide" }