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}, "referenceSequence": "http://reg.genome.network/refseq/RS277050" }, { "coordinates": [ { "allele": "A", "end": 2327, "referenceAllele": "C", "start": 2326 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000396032.7:c.2157C>A" ], "proteinEffect": { "hgvs": "ENSP00000379349.2:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS277051" }, { "coordinates": [ { "allele": "A", "end": 2586, "referenceAllele": "C", "start": 2585 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "ENST00000621696.4:c.2157C>A" ], "proteinEffect": { "hgvs": "ENSP00000483881.1:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS405390" }, { "@id": "http://reg.genome.network/allele/PA163347", "coordinates": [ { "allele": "A", "end": 2586, "referenceAllele": "C", "start": 2585 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.1:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS022018" }, { "@id": "http://reg.genome.network/allele/PA2826649790", "coordinates": [ { "allele": "A", "end": 2454, "referenceAllele": "C", "start": 2453 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282532.1:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_001269461.1:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS022019" }, { "@id": "http://reg.genome.network/allele/PA163348", "coordinates": [ { "allele": "A", "end": 2502, "referenceAllele": "C", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.3:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS033939" }, { "@id": "http://reg.genome.network/allele/PA356581", "coordinates": [ { "allele": "A", "end": 2327, "referenceAllele": "C", "start": 2326 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.2:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS043705" }, { "coordinates": [ { "allele": "A", "end": 2185, "referenceAllele": "C", "start": 2184 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528747.1:c.2157C>A" ], "proteinEffect": { "hgvs": "XP_011527049.1:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS095818" }, { "coordinates": [ { "allele": "A", "end": 2252, "referenceAllele": "C", "start": 2251 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528748.1:c.2184C>A" ], "proteinEffect": { "hgvs": "XP_011527050.1:p.Tyr728Ter", "hgvsWellDefined": "XP_011527050.1:p.Tyr728_Ala1111delinsGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095819" }, { "@id": "http://reg.genome.network/allele/PA163347", "coordinates": [ { "allele": "A", "end": 2809, "referenceAllele": "C", "start": 2808 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.2:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Tyr719Ter", "hgvsWellDefined": "NP_001269460.1:p.Tyr719_Ala1102delinsGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512105" }, { "@id": "http://reg.genome.network/allele/PA2827400220", "coordinates": [ { "allele": "A", "end": 2634, "referenceAllele": "C", "start": 2633 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001347511.1:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_001334440.1:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS517785" }, { "@id": "http://reg.genome.network/allele/PA163348", "coordinates": [ { "allele": "A", "end": 2725, "referenceAllele": "C", "start": 2724 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.4:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS525680" }, { "@id": "http://reg.genome.network/allele/PA356581", "coordinates": [ { "allele": "A", "end": 2550, "referenceAllele": "C", "start": 2549 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.3:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS526858" }, { "coordinates": [ { "allele": "A", "end": 2679, "referenceAllele": "C", "start": 2678 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528747.2:c.2157C>A" ], "proteinEffect": { "hgvs": "XP_011527049.1:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS549238" }, { "coordinates": [ { "allele": "A", "end": 2236, "referenceAllele": "C", "start": 2235 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_011528748.2:c.2184C>A" ], "proteinEffect": { "hgvs": "XP_011527050.1:p.Tyr728Ter", "hgvsWellDefined": "XP_011527050.1:p.Tyr728_Ala1111delinsGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549239" }, { "coordinates": [ { "allele": "A", "end": 3392, "referenceAllele": "C", "start": 3391 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_017027758.1:c.2157C>A" ], "proteinEffect": { "hgvs": "XP_016883247.1:p.Tyr719Ter", "hgvsWellDefined": "XP_016883247.1:p.Tyr719_Ala1102delinsGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577654" }, { "coordinates": [ { "allele": "A", "end": 2262, "referenceAllele": "C", "start": 2261 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "XM_017027759.1:c.2157C>A" ], "proteinEffect": { "hgvs": "XP_016883248.1:p.Tyr719Ter", "hgvsWellDefined": "XP_016883248.1:p.Tyr719_Ala1102delinsGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577655" }, { "@id": "http://reg.genome.network/allele/PA163347", "coordinates": [ { "allele": "A", "end": 3033, "referenceAllele": "C", "start": 3032 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282531.3:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_001269460.1:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS664204", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000621696.5:c.2157C>A" }, "RefSeq": { "hgvs": "NM_001282531.3:c.2157C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483881.1:p.Tyr719Ter" }, "RefSeq": { "hgvs": "NP_001269460.1:p.Tyr719Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827400220", "coordinates": [ { "allele": "A", "end": 2858, "referenceAllele": "C", "start": 2857 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001347511.2:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_001334440.1:p.Tyr719Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS687470" }, { "@id": "http://reg.genome.network/allele/PA163348", "coordinates": [ { "allele": "A", "end": 2949, "referenceAllele": "C", "start": 2948 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_015339.5:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_056154.1:p.Tyr719Ter", "hgvsWellDefined": "NP_056154.1:p.Tyr719_Ala1102delinsGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697515" }, { "@id": "http://reg.genome.network/allele/PA356581", "coordinates": [ { "allele": "A", "end": 2774, "referenceAllele": "C", "start": 2773 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_181442.4:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_852107.1:p.Tyr719Ter", "hgvsWellDefined": "NP_852107.1:p.Tyr719_Ala1102delinsGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700943" }, { "@id": "http://reg.genome.network/allele/PA2826649790", "coordinates": [ { "allele": "A", "end": 2454, "referenceAllele": "C", "start": 2453 } ], "gene": "http://reg.genome.network/gene/GN015766", "geneNCBI_id": 23394, "geneSymbol": "ADNP", "hgvs": [ "NM_001282532.2:c.2157C>A" ], "proteinEffect": { "hgvs": "NP_001269461.1:p.Tyr719Ter", "hgvsWellDefined": "NP_001269461.1:p.Tyr719_Ala1102delinsGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715832" } ], "type": "nucleotide" }