{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10653227", "communityStandardTitle": [ "NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=351150[alleleid]", "alleleId": 351150, "preferredName": "NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/338748", "RCV": [ "RCV000269400", "RCV003229829" ], "variationId": 338748 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.49510149G>A?assembly=hg19", "id": "chr20:g.49510149G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.50893612G>A?assembly=hg38", "id": "chr20:g.50893612G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886056775", "rs": 886056775 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748388" }, { "coordinates": [ { "allele": "T", "end": 2664, "referenceAllele": "C", "start": 2663 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000371602.9:c.1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000360662.2:p.Gln368Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS750822" }, { "coordinates": [ { "allele": "T", "end": 1832, "referenceAllele": "C", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396029.8:c.1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000379346.3:p.Gln368Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753472" }, { "coordinates": [ { "allele": "T", "end": 1978, "referenceAllele": "C", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000621696.5:c.1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000483881.1:p.Gln368Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS768162" }, { "coordinates": [ { "allele": "T", "end": 1937, "referenceAllele": "C", "start": 1936 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000673732.1:c.1318C>T" ], "proteinEffect": { "hgvs": "ENSP00000501294.1:p.Gln440Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS773824" }, { "coordinates": [ { "allele": "T", "end": 1399, "referenceAllele": "C", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000349014.7:c.1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000342905.3:p.Gln368Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS262540" }, { "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "C", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000371602.8:c.1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000360662.2:p.Gln368Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS268664" }, { "coordinates": [ { "allele": "T", "end": 1697, "referenceAllele": "C", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396029.7:c.1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000379346.3:p.Gln368Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS277050" }, { "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396032.7:c.1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000379349.2:p.Gln368Ter", "hgvsWellDefined": "ENSP00000379349.2:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277051" }, { "coordinates": [ { "allele": "T", "end": 1531, "referenceAllele": "C", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000621696.4:c.1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000483881.1:p.Gln368Ter", "hgvsWellDefined": "ENSP00000483881.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405390" }, { "@id": "http://reg.genome.network/allele/PA2826649118", "coordinates": [ { "allele": "T", "end": 1531, "referenceAllele": "C", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.1:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Gln368Ter", "hgvsWellDefined": "NP_001269460.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022018" }, { "@id": "http://reg.genome.network/allele/PA2826649651", "coordinates": [ { "allele": "T", "end": 1399, "referenceAllele": "C", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282532.1:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_001269461.1:p.Gln368Ter", "hgvsWellDefined": "NP_001269461.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022019" }, { "@id": "http://reg.genome.network/allele/PA645496087", "coordinates": [ { "allele": "T", "end": 1447, "referenceAllele": "C", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.3:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Gln368Ter", "hgvsWellDefined": "NP_056154.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033939" }, { "@id": "http://reg.genome.network/allele/PA916077265", "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.2:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Gln368Ter", "hgvsWellDefined": "NP_852107.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043705" }, { "coordinates": [ { "allele": "T", "end": 1130, "referenceAllele": "C", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528747.1:c.1102C>T" ], "proteinEffect": { "hgvs": "XP_011527049.1:p.Gln368Ter", "hgvsWellDefined": "XP_011527049.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095818" }, { "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528748.1:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_011527050.1:p.Gln377Ter", "hgvsWellDefined": "XP_011527050.1:p.Gln377_Ala1111delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095819" }, { "@id": "http://reg.genome.network/allele/PA2826649118", "coordinates": [ { "allele": "T", "end": 1754, "referenceAllele": "C", "start": 1753 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.2:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Gln368Ter", "hgvsWellDefined": "NP_001269460.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512105" }, { "@id": "http://reg.genome.network/allele/PA2827400082", "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001347511.1:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_001334440.1:p.Gln368Ter", "hgvsWellDefined": "NP_001334440.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517785" }, { "@id": "http://reg.genome.network/allele/PA645496087", "coordinates": [ { "allele": "T", "end": 1670, "referenceAllele": "C", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.4:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Gln368Ter", "hgvsWellDefined": "NP_056154.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525680" }, { "@id": "http://reg.genome.network/allele/PA916077265", "coordinates": [ { "allele": "T", "end": 1495, "referenceAllele": "C", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.3:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Gln368Ter", "hgvsWellDefined": "NP_852107.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526858" }, { "coordinates": [ { "allele": "T", "end": 1624, "referenceAllele": "C", "start": 1623 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528747.2:c.1102C>T" ], "proteinEffect": { "hgvs": "XP_011527049.1:p.Gln368Ter", "hgvsWellDefined": "XP_011527049.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549238" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528748.2:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_011527050.1:p.Gln377Ter", "hgvsWellDefined": "XP_011527050.1:p.Gln377_Ala1111delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549239" }, { "coordinates": [ { "allele": "T", "end": 2337, "referenceAllele": "C", "start": 2336 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_017027758.1:c.1102C>T" ], "proteinEffect": { "hgvs": "XP_016883247.1:p.Gln368Ter", "hgvsWellDefined": "XP_016883247.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577654" }, { "coordinates": [ { "allele": "T", "end": 1207, "referenceAllele": "C", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_017027759.1:c.1102C>T" ], "proteinEffect": { "hgvs": "XP_016883248.1:p.Gln368Ter", "hgvsWellDefined": "XP_016883248.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577655" }, { "@id": "http://reg.genome.network/allele/PA2826649118", "coordinates": [ { "allele": "T", "end": 1978, "referenceAllele": "C", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.3:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Gln368Ter", "hgvsWellDefined": "NP_001269460.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664204", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000621696.5:c.1102C>T" }, "RefSeq": { "hgvs": "NM_001282531.3:c.1102C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483881.1:p.Gln368Ter" }, "RefSeq": { "hgvs": "NP_001269460.1:p.Gln368Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827400082", "coordinates": [ { "allele": "T", "end": 1803, "referenceAllele": "C", "start": 1802 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001347511.2:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_001334440.1:p.Gln368Ter", "hgvsWellDefined": "NP_001334440.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687470" }, { "@id": "http://reg.genome.network/allele/PA645496087", "coordinates": [ { "allele": "T", "end": 1894, "referenceAllele": "C", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.5:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Gln368Ter", "hgvsWellDefined": "NP_056154.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697515" }, { "@id": "http://reg.genome.network/allele/PA916077265", "coordinates": [ { "allele": "T", "end": 1719, "referenceAllele": "C", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.4:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Gln368Ter", "hgvsWellDefined": "NP_852107.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700943" }, { "@id": "http://reg.genome.network/allele/PA2826649651", "coordinates": [ { "allele": "T", "end": 1399, "referenceAllele": "C", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282532.2:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_001269461.1:p.Gln368Ter", "hgvsWellDefined": "NP_001269461.1:p.Gln368_Ala1102delinsLeuLeuProSerGlyAsnGlyArgSerTyrGlyLeuGlySerGluGlnArgSerGlnAlaProAlaArgTyrSerLeuGlnSerAlaAsnAlaSerSerLeuSerSerGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715832" } ], "type": "nucleotide" }