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"XP_011531836.1:p.Gln2340_Arg2631delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100555" }, { "coordinates": [ { "allele": "T", "end": 8140, "referenceAllele": "C", "start": 8139 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533535.1:c.6847C>T" ], "proteinEffect": { "hgvs": "XP_011531837.1:p.Gln2283Ter", "hgvsWellDefined": "XP_011531837.1:p.Gln2283_Arg2574delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100556" }, { "coordinates": [ { "allele": "T", "end": 7352, "referenceAllele": "C", "start": 7351 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533536.1:c.6733C>T" ], "proteinEffect": { "hgvs": "XP_011531838.1:p.Gln2245Ter", "hgvsWellDefined": "XP_011531838.1:p.Gln2245_Arg2536delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100557" }, { "coordinates": [ { "allele": "T", "end": 6410, "referenceAllele": "C", "start": 6409 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533537.1:c.6295C>T" ], "proteinEffect": { "hgvs": "XP_011531839.1:p.Gln2099Ter", "hgvsWellDefined": "XP_011531839.1:p.Gln2099_Arg2390delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100558" }, { "coordinates": [ { "allele": "T", "end": 7363, "referenceAllele": "C", "start": 7362 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XR_940397.1:n.7363C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS135093" }, { "@id": "http://reg.genome.network/allele/PA2828167541", "coordinates": [ { "allele": "T", "end": 7343, "referenceAllele": "C", "start": 7342 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "NM_001365116.1:c.7285C>T" ], "proteinEffect": { "hgvs": "NP_001352045.1:p.Gln2429Ter", "hgvsWellDefined": "NP_001352045.1:p.Gln2429_Arg2720delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524029" }, { "coordinates": [ { "allele": "T", "end": 7482, "referenceAllele": "C", "start": 7481 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_006713072.3:c.7306C>T" ], "proteinEffect": { "hgvs": "XP_006713135.1:p.Gln2436Ter", "hgvsWellDefined": "XP_006713135.1:p.Gln2436_Arg2727delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538422" }, { "coordinates": [ { "allele": "T", "end": 7473, "referenceAllele": "C", "start": 7472 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_011533533.2:c.7297C>T" ], "proteinEffect": { "hgvs": "XP_011531835.1:p.Gln2433Ter", "hgvsWellDefined": "XP_011531835.1:p.Gln2433_Arg2724delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551286" }, { "coordinates": [ { "allele": "T", "end": 7563, "referenceAllele": "C", "start": 7562 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006010.1:c.7387C>T" ], "proteinEffect": { "hgvs": "XP_016861499.1:p.Gln2463Ter", "hgvsWellDefined": "XP_016861499.1:p.Gln2463_Tyr2782delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561134" }, { "coordinates": [ { "allele": "T", "end": 7419, "referenceAllele": "C", "start": 7418 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006011.1:c.7366C>T" ], "proteinEffect": { "hgvs": "XP_016861500.1:p.Gln2456Ter", "hgvsWellDefined": "XP_016861500.1:p.Gln2456_Tyr2775delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561135" }, { "coordinates": [ { "allele": "T", "end": 7482, "referenceAllele": "C", "start": 7481 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006012.1:c.7306C>T" ], "proteinEffect": { "hgvs": "XP_016861501.1:p.Gln2436Ter", "hgvsWellDefined": "XP_016861501.1:p.Gln2436_Tyr2755delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561136" }, { "coordinates": [ { "allele": "T", "end": 7473, "referenceAllele": "C", "start": 7472 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006013.1:c.7297C>T" ], "proteinEffect": { "hgvs": "XP_016861502.1:p.Gln2433Ter", "hgvsWellDefined": "XP_016861502.1:p.Gln2433_Tyr2752delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561137" }, { "coordinates": [ { "allele": "T", "end": 7338, "referenceAllele": "C", "start": 7337 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006014.1:c.7285C>T" ], "proteinEffect": { "hgvs": "XP_016861503.1:p.Gln2429Ter", "hgvsWellDefined": "XP_016861503.1:p.Gln2429_Tyr2748delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561138" }, { "coordinates": [ { "allele": "T", "end": 7194, "referenceAllele": "C", "start": 7193 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006015.1:c.7018C>T" ], "proteinEffect": { "hgvs": "XP_016861504.1:p.Gln2340Ter", "hgvsWellDefined": "XP_016861504.1:p.Gln2340_Tyr2659delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561139" }, { "coordinates": [ { "allele": "T", "end": 8140, "referenceAllele": "C", "start": 8139 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006016.1:c.6847C>T" ], "proteinEffect": { "hgvs": "XP_016861505.1:p.Gln2283Ter", "hgvsWellDefined": "XP_016861505.1:p.Gln2283_Tyr2602delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561140" }, { "coordinates": [ { "allele": "T", "end": 3982, "referenceAllele": "C", "start": 3981 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XM_017006017.1:c.3859C>T" ], "proteinEffect": { "hgvs": "XP_016861506.1:p.Gln1287Ter", "hgvsWellDefined": "XP_016861506.1:p.Gln1287_Tyr1606delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgMetGlyArgGlyTrpGlyGlyProSerAsnGlyAlaGlyArgGlyAlaAlaIleProAlaAspProThrGlnProLeuArgProProGlyAlaGlnGlnProValArgAlaGluAlaValAlaValLeuAlaAlaHisLeuProGlyValLeuGlyArgAspGlyIleGlnProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561141" }, { "coordinates": [ { "allele": "T", "end": 7363, "referenceAllele": "C", "start": 7362 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "XR_940397.2:n.7363C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS612634" }, { "@id": "http://reg.genome.network/allele/PA2828167541", "coordinates": [ { "allele": "T", "end": 7343, "referenceAllele": "C", "start": 7342 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "NM_001365116.2:c.7285C>T" ], "proteinEffect": { "hgvs": "NP_001352045.1:p.Gln2429Ter", "hgvsWellDefined": "NP_001352045.1:p.Gln2429_Arg2720delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690983" }, { "@id": "http://reg.genome.network/allele/PA915977363", "coordinates": [ { "allele": "T", "end": 7583, "referenceAllele": "C", "start": 7582 } ], "gene": "http://reg.genome.network/gene/GN031928", "geneNCBI_id": 23218, "geneSymbol": "NBEAL2", "hgvs": [ "NM_015175.3:c.7387C>T" ], "proteinEffect": { "hgvs": "NP_055990.1:p.Gln2463Ter", "hgvsWellDefined": "NP_055990.1:p.Gln2463_Arg2754delinsAlaLeuAlaValAlaProAspGlyLysLeuLeuPheSerGlyGlyHisTrpAspGlySerLeuArgValThrAlaLeuProArgGlyLysLeuLeuSerGlnLeuSerCysHisLeuAspValValThrCysLeuAlaLeuAspThrCysGlyIleTyrLeuIleSerGlySerArgAspThrThrCysMetValTrpArgLeuLeuHisGlnGlyGlyLeuSerValGlyLeuAlaProLysProValGlnValLeuTyrGlyHisGlyAlaAlaValSerCysValAlaIleSerThrGluLeuAspMetAlaValSerGlySerGluAspGlyThrValIleIleHisThrValArgArgGlyGlnPheValAlaAlaLeuArgProLeuGlyAlaThrPheProGlyProIlePheHisLeuAlaLeuGlySerGluGlyGlnIleValValGlnSerSerAlaTrpGluArgProGlyAlaGlnValThrTyrSerLeuHisLeuTyrSerValAsnGlyLysLeuArgAlaSerLeuProLeuAlaGluGlnProThrAlaLeuThrValThrGluAspPheValLeuLeuGlyThrAlaGlnCysAlaLeuHisIleLeuGlnLeuAsnThrLeuLeuProAlaAlaProProLeuProMetLysValAlaIleArgSerValAlaValThrLysGluArgSerHisValLeuValGlyLeuGluAspGlyLysLeuIleValValValAlaGlyGlnProSerGluValArgSerSerGlnPheAlaArgLysLeuTrpArgSerSerArgArgIleSerGlnValSerSerGlyGluThrGluTyrAsnProThrGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697460", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450053.8:c.7387C>T" }, "RefSeq": { "hgvs": "NM_015175.3:c.7387C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415034.2:p.Gln2463Ter" }, "RefSeq": { "hgvs": "NP_055990.1:p.Gln2463Ter" } } } } ], "type": "nucleotide" }