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"ENSP00000487386.1:p.Trp326_Arg585delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406866" }, { "@id": "http://reg.genome.network/allele/PA2826261163", "coordinates": [ { "allele": "A", "end": 961, "referenceAllele": "G", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001202464.1:c.866G>A" ], "proteinEffect": { "hgvs": "NP_001189393.1:p.Trp289Ter", "hgvsWellDefined": "NP_001189393.1:p.Trp289_Arg548delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017410" }, { "@id": "http://reg.genome.network/allele/PA2826261320", "coordinates": [ { "allele": "A", "end": 1201, "referenceAllele": "G", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001202465.1:c.773G>A" ], "proteinEffect": { "hgvs": "NP_001189394.1:p.Trp258Ter", "hgvsWellDefined": "NP_001189394.1:p.Trp258_Arg517delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017411" }, { "@id": "http://reg.genome.network/allele/PA2826261487", "coordinates": [ { "allele": "A", "end": 1291, "referenceAllele": "G", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001202466.1:c.863G>A" ], "proteinEffect": { "hgvs": "NP_001189395.1:p.Trp288Ter", "hgvsWellDefined": "NP_001189395.1:p.Trp288_Arg547delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017412" }, { "@id": "http://reg.genome.network/allele/PA2826261654", "coordinates": [ { "allele": "A", "end": 885, "referenceAllele": "G", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001202467.1:c.866G>A" ], "proteinEffect": { "hgvs": "NP_001189396.1:p.Trp289Ter", "hgvsWellDefined": "NP_001189396.1:p.Trp289_Phe514delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpValAsnThrSerLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017413" }, { "@id": "http://reg.genome.network/allele/PA2826261812", "coordinates": [ { "allele": "A", "end": 1047, "referenceAllele": "G", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001202468.1:c.1028G>A" ], "proteinEffect": { "hgvs": "NP_001189397.1:p.Trp343Ter", "hgvsWellDefined": "NP_001189397.1:p.Trp343_Phe568delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpValAsnThrSerLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017414" }, { "@id": "http://reg.genome.network/allele/PA2573088866", "coordinates": [ { "allele": "A", "end": 1369, "referenceAllele": "G", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN016966", 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"XP_005252417.1:p.Trp342_Arg601delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059915" }, { "coordinates": [ { "allele": "A", "end": 1196, "referenceAllele": "G", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "XM_005252361.2:c.866G>A" ], "proteinEffect": { "hgvs": "XP_005252418.1:p.Trp289Ter", "hgvsWellDefined": 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"XP_005252419.1:p.Trp289_Arg548delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059917" }, { "coordinates": [ { "allele": "A", "end": 1202, "referenceAllele": "G", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "XM_006717376.1:c.866G>A" ], "proteinEffect": { "hgvs": "XP_006717439.1:p.Trp289Ter", "hgvsWellDefined": 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"NP_001357045.1:p.Trp321_Arg580delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692140" }, { "@id": "http://reg.genome.network/allele/PA2828379438", "coordinates": [ { "allele": "A", "end": 1152, 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"NP_001357046.1:p.Trp343_Arg579delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692141" }, { "@id": "http://reg.genome.network/allele/PA2828379592", "coordinates": [ { "allele": "A", "end": 1215, "referenceAllele": "G", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001370118.2:c.908G>A" ], "proteinEffect": { "hgvs": "NP_001357047.1:p.Trp303Ter", "hgvsWellDefined": "NP_001357047.1:p.Trp303_Arg562delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692142" }, { "@id": "http://reg.genome.network/allele/PA2828379756", "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001370119.2:c.950G>A" ], "proteinEffect": { "hgvs": "NP_001357048.1:p.Trp317Ter", "hgvsWellDefined": "NP_001357048.1:p.Trp317_Arg553delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692143" }, { "@id": "http://reg.genome.network/allele/PA2828379906", "coordinates": [ { "allele": "A", "end": 843, "referenceAllele": "G", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001370120.2:c.800G>A" ], "proteinEffect": { "hgvs": "NP_001357049.1:p.Trp267Ter", "hgvsWellDefined": "NP_001357049.1:p.Trp267_Arg526delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692144" }, { "@id": "http://reg.genome.network/allele/PA2828380051", "coordinates": [ { "allele": "A", "end": 855, "referenceAllele": "G", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001370121.2:c.746G>A" ], "proteinEffect": { "hgvs": "NP_001357050.1:p.Trp249Ter", "hgvsWellDefined": "NP_001357050.1:p.Trp249_Arg508delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692145" }, { "@id": "http://reg.genome.network/allele/PA2828380207", "coordinates": [ { "allele": "A", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001370122.2:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001357051.1:p.Trp241Ter", "hgvsWellDefined": "NP_001357051.1:p.Trp241_Arg500delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692146" }, { "@id": "http://reg.genome.network/allele/PA2828380350", "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "G", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001370123.2:c.671G>A" ], "proteinEffect": { "hgvs": "NP_001357052.1:p.Trp224Ter", "hgvsWellDefined": "NP_001357052.1:p.Trp224_Arg483delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692147" }, { "@id": "http://reg.genome.network/allele/PA2828380478", "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001370124.3:c.557G>A" ], "proteinEffect": { "hgvs": "NP_001357053.1:p.Trp186Ter", "hgvsWellDefined": "NP_001357053.1:p.Trp186_Arg445delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692148" }, { "@id": "http://reg.genome.network/allele/PA2573088866", "coordinates": [ { "allele": "A", "end": 1350, "referenceAllele": "G", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_006624.7:c.1028G>A" ], "proteinEffect": { "hgvs": "NP_006615.2:p.Trp343Ter", "hgvsWellDefined": "NP_006615.2:p.Trp343_Arg602delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696767" }, { "@id": "http://reg.genome.network/allele/PA2830521508", "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "G", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_212479.4:c.1025G>A" ], "proteinEffect": { "hgvs": "NP_997644.2:p.Trp342Ter", "hgvsWellDefined": "NP_997644.2:p.Trp342_Phe567delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpValAsnThrSerLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701790" }, { "coordinates": [ { "allele": "A", "end": 1059, "referenceAllele": "G", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NR_163254.2:n.1059G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705517" }, { "@id": "http://reg.genome.network/allele/PA2828376617", "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "G", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN016966", "geneNCBI_id": 10771, "geneSymbol": "ZMYND11", "hgvs": [ "NM_001370100.5:c.1028G>A" ], "proteinEffect": { "hgvs": "NP_001357029.1:p.Trp343Ter", "hgvsWellDefined": "NP_001357029.1:p.Trp343_Arg602delinsLysLysAlaCysAspGluLeuGluLeuHisGlnArgPheLeuArgGluGlyArgPheTrpLysSerLysAsnGluAspArgGlyGluGluGluAlaGluSerSerIleSerSerThrSerAsnGluGlnLeuLysValThrGlnGluProArgAlaLysLysGlyArgArgAsnGlnSerValGluProLysLysGluGluProGluProGluThrGluAlaValSerSerSerGlnGluIleProThrMetProGlnProIleGluLysValSerValSerThrGlnThrLysLysLeuSerAlaSerSerProArgMetLeuHisArgSerThrGlnThrThrAsnAspGlyValCysGlnSerMetCysHisAspLysTyrThrLysIlePheAsnAspPheLysAspArgMetLysSerAspHisLysArgGluThrGluArgValValArgGluAlaLeuGluLysLeuArgSerGluMetGluGluGluLysArgGlnAlaValAsnLysAlaValAlaAsnMetGlnGlyGluMetAspArgLysCysLysGlnValLysGluLysCysLysGluGluPheValGluGluIleLysLysLeuAlaThrGlnHisLysGlnLeuIleSerGlnThrLysLysLysGlnTrpCysTyrAsnCysGluGluGluAlaMetTyrHisCysCysTrpAsnThrSerTyrCysSerIleLysCysGlnGlnGluHisTrpHisAlaGluHisLysArgThrCysArgArgLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721163", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000381604.9:c.1028G>A" }, "RefSeq": { "hgvs": "NM_001370100.5:c.1028G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000371017.6:p.Trp343Ter" }, "RefSeq": { "hgvs": "NP_001357029.1:p.Trp343Ter" } } } } ], "type": "nucleotide" }