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}, "referenceSequence": "http://reg.genome.network/refseq/RS085570" }, { "coordinates": [ { "allele": "A", "end": 723, "referenceAllele": "T", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN016380", "geneNCBI_id": 22954, "geneSymbol": "TRIM32", "hgvs": [ "XM_011518397.1:c.509T>A" ], "proteinEffect": { "hgvs": "XP_011516699.1:p.Leu170Ter", "hgvsWellDefined": "XP_011516699.1:p.Leu170_Pro653delinsGluGlyValSerLysAspLeuGlnAlaArgTyrLysAlaValLeuGlnGluTyrGlyHisGluGluArgArgValGlnAspGluLeuAlaArgSerArgLysPhePheThrGlySerLeuAlaGluValGluLysSerAsnSerGlnValValGluGluGlnSerTyrLeuLeuAsnIleAlaGluValGlnAlaValSerArgCysAspTyrPheLeuAlaLysIleLysGlnAlaAspValAlaLeuLeuGluGluThrAlaAspGluGluGluProGluLeuThrAlaSerLeuProArgGluLeuThrLeuGlnAspValGluLeuLeuLysValGlyHisValGlyProLeuGlnIleGlyGlnAlaValLysLysProArgThrValAsnValGluAspSerTrpAlaMetGluAlaThrAlaSerAlaAlaSerThrSerValThrPheArgGluMetAspMetSerProGluGluValValAlaSerProArgAlaSerProAlaLysGlnArgGlyProGluAlaAlaSerAsnIleGlnGlnCysLeuPheLeuLysLysMetGlyAlaLysGlySerThrProGlyMetPheAsnLeuProValSerLeuTyrValThrSerGlnGlyGluValLeuValAlaAspArgGlyAsnTyrArgIleGlnValPheThrArgLysGlyPheLeuLysGluIleArgArgSerProSerGlyIleAspSerPheValLeuSerPheLeuGlyAlaAspLeuProAsnLeuThrProLeuSerValAlaMetAsnCysGlnGlyLeuIleGlyValThrAspSerTyrAspAsnSerLeuLysValTyrThrLeuAspGlyHisCysValAlaCysHisArgSerGlnLeuSerLysProTrpGlyIleThrAlaLeuProSerGlyGlnPheValValThrAspValGluGlyGlyLysLeuTrpCysPheThrValAspArgGlySerGlyValValLysTyrSerCysLeuCysSerAlaValArgProLysPheValThrCysAspAlaGluGlyThrValTyrPheThrGlnGlyLeuGlyLeuAsnLeuGluAsnArgGlnAsnGluHisHisLeuGluGlyGlyPheSerIleGlySerValGlyProAspGlyGlnLeuGlyArgGlnIleSerHisPhePheSerGluAsnGluAspPheArgCysIleAlaGlyMetCysValAspAlaArgGlyAspLeuIleValAlaAspSerSerArgLysGluIleLeuHisPheProLysGlyGlyGlyTyrSerValLeuIleArgGluGlyLeuThrCysProValGlyIleAlaLeuThrProLysGlyGlnLeuLeuValLeuAspCysTrpAspHisCysIleLysIleTyrSerTyrHisLeuArgArgTyrSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085571" }, { "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "T", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN016380", "geneNCBI_id": 22954, "geneSymbol": "TRIM32", "hgvs": [ "XM_011518398.1:c.509T>A" ], "proteinEffect": { "hgvs": "XP_011516700.1:p.Leu170Ter", "hgvsWellDefined": "XP_011516700.1:p.Leu170_Pro653delinsGluGlyValSerLysAspLeuGlnAlaArgTyrLysAlaValLeuGlnGluTyrGlyHisGluGluArgArgValGlnAspGluLeuAlaArgSerArgLysPhePheThrGlySerLeuAlaGluValGluLysSerAsnSerGlnValValGluGluGlnSerTyrLeuLeuAsnIleAlaGluValGlnAlaValSerArgCysAspTyrPheLeuAlaLysIleLysGlnAlaAspValAlaLeuLeuGluGluThrAlaAspGluGluGluProGluLeuThrAlaSerLeuProArgGluLeuThrLeuGlnAspValGluLeuLeuLysValGlyHisValGlyProLeuGlnIleGlyGlnAlaValLysLysProArgThrValAsnValGluAspSerTrpAlaMetGluAlaThrAlaSerAlaAlaSerThrSerValThrPheArgGluMetAspMetSerProGluGluValValAlaSerProArgAlaSerProAlaLysGlnArgGlyProGluAlaAlaSerAsnIleGlnGlnCysLeuPheLeuLysLysMetGlyAlaLysGlySerThrProGlyMetPheAsnLeuProValSerLeuTyrValThrSerGlnGlyGluValLeuValAlaAspArgGlyAsnTyrArgIleGlnValPheThrArgLysGlyPheLeuLysGluIleArgArgSerProSerGlyIleAspSerPheValLeuSerPheLeuGlyAlaAspLeuProAsnLeuThrProLeuSerValAlaMetAsnCysGlnGlyLeuIleGlyValThrAspSerTyrAspAsnSerLeuLysValTyrThrLeuAspGlyHisCysValAlaCysHisArgSerGlnLeuSerLysProTrpGlyIleThrAlaLeuProSerGlyGlnPheValValThrAspValGluGlyGlyLysLeuTrpCysPheThrValAspArgGlySerGlyValValLysTyrSerCysLeuCysSerAlaValArgProLysPheValThrCysAspAlaGluGlyThrValTyrPheThrGlnGlyLeuGlyLeuAsnLeuGluAsnArgGlnAsnGluHisHisLeuGluGlyGlyPheSerIleGlySerValGlyProAspGlyGlnLeuGlyArgGlnIleSerHisPhePheSerGluAsnGluAspPheArgCysIleAlaGlyMetCysValAspAlaArgGlyAspLeuIleValAlaAspSerSerArgLysGluIleLeuHisPheProLysGlyGlyGlyTyrSerValLeuIleArgGluGlyLeuThrCysProValGlyIleAlaLeuThrProLysGlyGlnLeuLeuValLeuAspCysTrpAspHisCysIleLysIleTyrSerTyrHisLeuArgArgTyrSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085572" }, { "coordinates": [ { "allele": "T", "end": 2925, "endIntronDirection": "+", "endIntronOffset": 27520, "referenceAllele": "A", "start": 2925, "startIntronDirection": "+", "startIntronOffset": 27519 } ], "gene": "http://reg.genome.network/gene/GN017021", "geneNCBI_id": 23245, "geneSymbol": "ASTN2", "hgvs": [ "NM_001365068.1:c.2806+27520A>T" ], "proteinEffect": { "hgvs": "NP_001351997.1:n.2806+27520A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524020", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000313400.9:c.2806+27520A>T" }, "RefSeq": { "hgvs": "NM_001365068.1:c.2806+27520A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000314038.4:n.2806+27520A>T" }, "RefSeq": { "hgvs": "NP_001351997.1:n.2806+27520A>T" } } } }, { "coordinates": [ { "allele": "T", "end": 2913, "endIntronDirection": "+", "endIntronOffset": 27520, "referenceAllele": "A", "start": 2913, "startIntronDirection": "+", "startIntronOffset": 27519 } ], "gene": "http://reg.genome.network/gene/GN017021", "geneNCBI_id": 23245, "geneSymbol": "ASTN2", "hgvs": [ "NM_001365069.1:c.2794+27520A>T" ], "proteinEffect": { "hgvs": "NP_001351998.1:n.2794+27520A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524021" }, { "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "T", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN016380", "geneNCBI_id": 22954, "geneSymbol": "TRIM32", "hgvs": [ "XM_005251813.4:c.509T>A" ], "proteinEffect": { "hgvs": "XP_005251870.1:p.Leu170Ter", "hgvsWellDefined": "XP_005251870.1:p.Leu170_Pro653delinsGluGlyValSerLysAspLeuGlnAlaArgTyrLysAlaValLeuGlnGluTyrGlyHisGluGluArgArgValGlnAspGluLeuAlaArgSerArgLysPhePheThrGlySerLeuAlaGluValGluLysSerAsnSerGlnValValGluGluGlnSerTyrLeuLeuAsnIleAlaGluValGlnAlaValSerArgCysAspTyrPheLeuAlaLysIleLysGlnAlaAspValAlaLeuLeuGluGluThrAlaAspGluGluGluProGluLeuThrAlaSerLeuProArgGluLeuThrLeuGlnAspValGluLeuLeuLysValGlyHisValGlyProLeuGlnIleGlyGlnAlaValLysLysProArgThrValAsnValGluAspSerTrpAlaMetGluAlaThrAlaSerAlaAlaSerThrSerValThrPheArgGluMetAspMetSerProGluGluValValAlaSerProArgAlaSerProAlaLysGlnArgGlyProGluAlaAlaSerAsnIleGlnGlnCysLeuPheLeuLysLysMetGlyAlaLysGlySerThrProGlyMetPheAsnLeuProValSerLeuTyrValThrSerGlnGlyGluValLeuValAlaAspArgGlyAsnTyrArgIleGlnValPheThrArgLysGlyPheLeuLysGluIleArgArgSerProSerGlyIleAspSerPheValLeuSerPheLeuGlyAlaAspLeuProAsnLeuThrProLeuSerValAlaMetAsnCysGlnGlyLeuIleGlyValThrAspSerTyrAspAsnSerLeuLysValTyrThrLeuAspGlyHisCysValAlaCysHisArgSerGlnLeuSerLysProTrpGlyIleThrAlaLeuProSerGlyGlnPheValValThrAspValGluGlyGlyLysLeuTrpCysPheThrValAspArgGlySerGlyValValLysTyrSerCysLeuCysSerAlaValArgProLysPheValThrCysAspAlaGluGlyThrValTyrPheThrGlnGlyLeuGlyLeuAsnLeuGluAsnArgGlnAsnGluHisHisLeuGluGlyGlyPheSerIleGlySerValGlyProAspGlyGlnLeuGlyArgGlnIleSerHisPhePheSerGluAsnGluAspPheArgCysIleAlaGlyMetCysValAspAlaArgGlyAspLeuIleValAlaAspSerSerArgLysGluIleLeuHisPheProLysGlyGlyGlyTyrSerValLeuIleArgGluGlyLeuThrCysProValGlyIleAlaLeuThrProLysGlyGlnLeuLeuValLeuAspCysTrpAspHisCysIleLysIleTyrSerTyrHisLeuArgArgTyrSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533674" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "T", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN016380", "geneNCBI_id": 22954, "geneSymbol": "TRIM32", "hgvs": [ "XM_011518398.2:c.509T>A" ], "proteinEffect": { "hgvs": "XP_011516700.1:p.Leu170Ter", "hgvsWellDefined": "XP_011516700.1:p.Leu170_Pro653delinsGluGlyValSerLysAspLeuGlnAlaArgTyrLysAlaValLeuGlnGluTyrGlyHisGluGluArgArgValGlnAspGluLeuAlaArgSerArgLysPhePheThrGlySerLeuAlaGluValGluLysSerAsnSerGlnValValGluGluGlnSerTyrLeuLeuAsnIleAlaGluValGlnAlaValSerArgCysAspTyrPheLeuAlaLysIleLysGlnAlaAspValAlaLeuLeuGluGluThrAlaAspGluGluGluProGluLeuThrAlaSerLeuProArgGluLeuThrLeuGlnAspValGluLeuLeuLysValGlyHisValGlyProLeuGlnIleGlyGlnAlaValLysLysProArgThrValAsnValGluAspSerTrpAlaMetGluAlaThrAlaSerAlaAlaSerThrSerValThrPheArgGluMetAspMetSerProGluGluValValAlaSerProArgAlaSerProAlaLysGlnArgGlyProGluAlaAlaSerAsnIleGlnGlnCysLeuPheLeuLysLysMetGlyAlaLysGlySerThrProGlyMetPheAsnLeuProValSerLeuTyrValThrSerGlnGlyGluValLeuValAlaAspArgGlyAsnTyrArgIleGlnValPheThrArgLysGlyPheLeuLysGluIleArgArgSerProSerGlyIleAspSerPheValLeuSerPheLeuGlyAlaAspLeuProAsnLeuThrProLeuSerValAlaMetAsnCysGlnGlyLeuIleGlyValThrAspSerTyrAspAsnSerLeuLysValTyrThrLeuAspGlyHisCysValAlaCysHisArgSerGlnLeuSerLysProTrpGlyIleThrAlaLeuProSerGlyGlnPheValValThrAspValGluGlyGlyLysLeuTrpCysPheThrValAspArgGlySerGlyValValLysTyrSerCysLeuCysSerAlaValArgProLysPheValThrCysAspAlaGluGlyThrValTyrPheThrGlnGlyLeuGlyLeuAsnLeuGluAsnArgGlnAsnGluHisHisLeuGluGlyGlyPheSerIleGlySerValGlyProAspGlyGlnLeuGlyArgGlnIleSerHisPhePheSerGluAsnGluAspPheArgCysIleAlaGlyMetCysValAspAlaArgGlyAspLeuIleValAlaAspSerSerArgLysGluIleLeuHisPheProLysGlyGlyGlyTyrSerValLeuIleArgGluGlyLeuThrCysProValGlyIleAlaLeuThrProLysGlyGlnLeuLeuValLeuAspCysTrpAspHisCysIleLysIleTyrSerTyrHisLeuArgArgTyrSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544902" }, { "coordinates": [ { "allele": "A", "end": 727, "referenceAllele": "T", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016380", "geneNCBI_id": 22954, "geneSymbol": "TRIM32", "hgvs": [ "XM_017014486.1:c.509T>A" ], "proteinEffect": { "hgvs": "XP_016869975.1:p.Leu170Ter", "hgvsWellDefined": "XP_016869975.1:p.Leu170_Pro653delinsGluGlyValSerLysAspLeuGlnAlaArgTyrLysAlaValLeuGlnGluTyrGlyHisGluGluArgArgValGlnAspGluLeuAlaArgSerArgLysPhePheThrGlySerLeuAlaGluValGluLysSerAsnSerGlnValValGluGluGlnSerTyrLeuLeuAsnIleAlaGluValGlnAlaValSerArgCysAspTyrPheLeuAlaLysIleLysGlnAlaAspValAlaLeuLeuGluGluThrAlaAspGluGluGluProGluLeuThrAlaSerLeuProArgGluLeuThrLeuGlnAspValGluLeuLeuLysValGlyHisValGlyProLeuGlnIleGlyGlnAlaValLysLysProArgThrValAsnValGluAspSerTrpAlaMetGluAlaThrAlaSerAlaAlaSerThrSerValThrPheArgGluMetAspMetSerProGluGluValValAlaSerProArgAlaSerProAlaLysGlnArgGlyProGluAlaAlaSerAsnIleGlnGlnCysLeuPheLeuLysLysMetGlyAlaLysGlySerThrProGlyMetPheAsnLeuProValSerLeuTyrValThrSerGlnGlyGluValLeuValAlaAspArgGlyAsnTyrArgIleGlnValPheThrArgLysGlyPheLeuLysGluIleArgArgSerProSerGlyIleAspSerPheValLeuSerPheLeuGlyAlaAspLeuProAsnLeuThrProLeuSerValAlaMetAsnCysGlnGlyLeuIleGlyValThrAspSerTyrAspAsnSerLeuLysValTyrThrLeuAspGlyHisCysValAlaCysHisArgSerGlnLeuSerLysProTrpGlyIleThrAlaLeuProSerGlyGlnPheValValThrAspValGluGlyGlyLysLeuTrpCysPheThrValAspArgGlySerGlyValValLysTyrSerCysLeuCysSerAlaValArgProLysPheValThrCysAspAlaGluGlyThrValTyrPheThrGlnGlyLeuGlyLeuAsnLeuGluAsnArgGlnAsnGluHisHisLeuGluGlyGlyPheSerIleGlySerValGlyProAspGlyGlnLeuGlyArgGlnIleSerHisPhePheSerGluAsnGluAspPheArgCysIleAlaGlyMetCysValAspAlaArgGlyAspLeuIleValAlaAspSerSerArgLysGluIleLeuHisPheProLysGlyGlyGlyTyrSerValLeuIleArgGluGlyLeuThrCysProValGlyIleAlaLeuThrProLysGlyGlnLeuLeuValLeuAspCysTrpAspHisCysIleLysIleTyrSerTyrHisLeuArgArgTyrSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567444" }, { "@id": "http://reg.genome.network/allele/PA2825499664", "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "T", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN016380", "geneNCBI_id": 22954, "geneSymbol": "TRIM32", "hgvs": [ "NM_001099679.2:c.509T>A" ], "proteinEffect": { "hgvs": "NP_001093149.1:p.Leu170Ter", "hgvsWellDefined": "NP_001093149.1:p.Leu170_Pro653delinsGluGlyValSerLysAspLeuGlnAlaArgTyrLysAlaValLeuGlnGluTyrGlyHisGluGluArgArgValGlnAspGluLeuAlaArgSerArgLysPhePheThrGlySerLeuAlaGluValGluLysSerAsnSerGlnValValGluGluGlnSerTyrLeuLeuAsnIleAlaGluValGlnAlaValSerArgCysAspTyrPheLeuAlaLysIleLysGlnAlaAspValAlaLeuLeuGluGluThrAlaAspGluGluGluProGluLeuThrAlaSerLeuProArgGluLeuThrLeuGlnAspValGluLeuLeuLysValGlyHisValGlyProLeuGlnIleGlyGlnAlaValLysLysProArgThrValAsnValGluAspSerTrpAlaMetGluAlaThrAlaSerAlaAlaSerThrSerValThrPheArgGluMetAspMetSerProGluGluValValAlaSerProArgAlaSerProAlaLysGlnArgGlyProGluAlaAlaSerAsnIleGlnGlnCysLeuPheLeuLysLysMetGlyAlaLysGlySerThrProGlyMetPheAsnLeuProValSerLeuTyrValThrSerGlnGlyGluValLeuValAlaAspArgGlyAsnTyrArgIleGlnValPheThrArgLysGlyPheLeuLysGluIleArgArgSerProSerGlyIleAspSerPheValLeuSerPheLeuGlyAlaAspLeuProAsnLeuThrProLeuSerValAlaMetAsnCysGlnGlyLeuIleGlyValThrAspSerTyrAspAsnSerLeuLysValTyrThrLeuAspGlyHisCysValAlaCysHisArgSerGlnLeuSerLysProTrpGlyIleThrAlaLeuProSerGlyGlnPheValValThrAspValGluGlyGlyLysLeuTrpCysPheThrValAspArgGlySerGlyValValLysTyrSerCysLeuCysSerAlaValArgProLysPheValThrCysAspAlaGluGlyThrValTyrPheThrGlnGlyLeuGlyLeuAsnLeuGluAsnArgGlnAsnGluHisHisLeuGluGlyGlyPheSerIleGlySerValGlyProAspGlyGlnLeuGlyArgGlnIleSerHisPhePheSerGluAsnGluAspPheArgCysIleAlaGlyMetCysValAspAlaArgGlyAspLeuIleValAlaAspSerSerArgLysGluIleLeuHisPheProLysGlyGlyGlyTyrSerValLeuIleArgGluGlyLeuThrCysProValGlyIleAlaLeuThrProLysGlyGlnLeuLeuValLeuAspCysTrpAspHisCysIleLysIleTyrSerTyrHisLeuArgArgTyrSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676514" }, { "coordinates": [ { "allele": "T", "end": 2772, "endIntronDirection": "+", "endIntronOffset": 27520, "referenceAllele": "A", "start": 2772, "startIntronDirection": "+", "startIntronOffset": 27519 } ], "gene": "http://reg.genome.network/gene/GN017021", "geneNCBI_id": 23245, "geneSymbol": "ASTN2", "hgvs": [ "NM_014010.5:c.2653+27520A>T" ], "proteinEffect": { "hgvs": "NP_054729.3:n.2653+27520A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS697170" }, { "@id": "http://reg.genome.network/allele/PA2828805227", "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "T", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN016380", "geneNCBI_id": 22954, "geneSymbol": "TRIM32", "hgvs": [ "NM_001379048.1:c.509T>A" ], "proteinEffect": { "hgvs": "NP_001365977.1:p.Leu170Ter", "hgvsWellDefined": "NP_001365977.1:p.Leu170_Pro653delinsGluGlyValSerLysAspLeuGlnAlaArgTyrLysAlaValLeuGlnGluTyrGlyHisGluGluArgArgValGlnAspGluLeuAlaArgSerArgLysPhePheThrGlySerLeuAlaGluValGluLysSerAsnSerGlnValValGluGluGlnSerTyrLeuLeuAsnIleAlaGluValGlnAlaValSerArgCysAspTyrPheLeuAlaLysIleLysGlnAlaAspValAlaLeuLeuGluGluThrAlaAspGluGluGluProGluLeuThrAlaSerLeuProArgGluLeuThrLeuGlnAspValGluLeuLeuLysValGlyHisValGlyProLeuGlnIleGlyGlnAlaValLysLysProArgThrValAsnValGluAspSerTrpAlaMetGluAlaThrAlaSerAlaAlaSerThrSerValThrPheArgGluMetAspMetSerProGluGluValValAlaSerProArgAlaSerProAlaLysGlnArgGlyProGluAlaAlaSerAsnIleGlnGlnCysLeuPheLeuLysLysMetGlyAlaLysGlySerThrProGlyMetPheAsnLeuProValSerLeuTyrValThrSerGlnGlyGluValLeuValAlaAspArgGlyAsnTyrArgIleGlnValPheThrArgLysGlyPheLeuLysGluIleArgArgSerProSerGlyIleAspSerPheValLeuSerPheLeuGlyAlaAspLeuProAsnLeuThrProLeuSerValAlaMetAsnCysGlnGlyLeuIleGlyValThrAspSerTyrAspAsnSerLeuLysValTyrThrLeuAspGlyHisCysValAlaCysHisArgSerGlnLeuSerLysProTrpGlyIleThrAlaLeuProSerGlyGlnPheValValThrAspValGluGlyGlyLysLeuTrpCysPheThrValAspArgGlySerGlyValValLysTyrSerCysLeuCysSerAlaValArgProLysPheValThrCysAspAlaGluGlyThrValTyrPheThrGlnGlyLeuGlyLeuAsnLeuGluAsnArgGlnAsnGluHisHisLeuGluGlyGlyPheSerIleGlySerValGlyProAspGlyGlnLeuGlyArgGlnIleSerHisPhePheSerGluAsnGluAspPheArgCysIleAlaGlyMetCysValAspAlaArgGlyAspLeuIleValAlaAspSerSerArgLysGluIleLeuHisPheProLysGlyGlyGlyTyrSerValLeuIleArgGluGlyLeuThrCysProValGlyIleAlaLeuThrProLysGlyGlnLeuLeuValLeuAspCysTrpAspHisCysIleLysIleTyrSerTyrHisLeuArgArgTyrSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721899" }, { "@id": "http://reg.genome.network/allele/PA2828805775", "coordinates": [ { "allele": "A", "end": 687, "referenceAllele": "T", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN016380", "geneNCBI_id": 22954, "geneSymbol": "TRIM32", "hgvs": [ "NM_001379049.1:c.509T>A" ], "proteinEffect": { "hgvs": "NP_001365978.1:p.Leu170Ter", "hgvsWellDefined": "NP_001365978.1:p.Leu170_Pro653delinsGluGlyValSerLysAspLeuGlnAlaArgTyrLysAlaValLeuGlnGluTyrGlyHisGluGluArgArgValGlnAspGluLeuAlaArgSerArgLysPhePheThrGlySerLeuAlaGluValGluLysSerAsnSerGlnValValGluGluGlnSerTyrLeuLeuAsnIleAlaGluValGlnAlaValSerArgCysAspTyrPheLeuAlaLysIleLysGlnAlaAspValAlaLeuLeuGluGluThrAlaAspGluGluGluProGluLeuThrAlaSerLeuProArgGluLeuThrLeuGlnAspValGluLeuLeuLysValGlyHisValGlyProLeuGlnIleGlyGlnAlaValLysLysProArgThrValAsnValGluAspSerTrpAlaMetGluAlaThrAlaSerAlaAlaSerThrSerValThrPheArgGluMetAspMetSerProGluGluValValAlaSerProArgAlaSerProAlaLysGlnArgGlyProGluAlaAlaSerAsnIleGlnGlnCysLeuPheLeuLysLysMetGlyAlaLysGlySerThrProGlyMetPheAsnLeuProValSerLeuTyrValThrSerGlnGlyGluValLeuValAlaAspArgGlyAsnTyrArgIleGlnValPheThrArgLysGlyPheLeuLysGluIleArgArgSerProSerGlyIleAspSerPheValLeuSerPheLeuGlyAlaAspLeuProAsnLeuThrProLeuSerValAlaMetAsnCysGlnGlyLeuIleGlyValThrAspSerTyrAspAsnSerLeuLysValTyrThrLeuAspGlyHisCysValAlaCysHisArgSerGlnLeuSerLysProTrpGlyIleThrAlaLeuProSerGlyGlnPheValValThrAspValGluGlyGlyLysLeuTrpCysPheThrValAspArgGlySerGlyValValLysTyrSerCysLeuCysSerAlaValArgProLysPheValThrCysAspAlaGluGlyThrValTyrPheThrGlnGlyLeuGlyLeuAsnLeuGluAsnArgGlnAsnGluHisHisLeuGluGlyGlyPheSerIleGlySerValGlyProAspGlyGlnLeuGlyArgGlnIleSerHisPhePheSerGluAsnGluAspPheArgCysIleAlaGlyMetCysValAspAlaArgGlyAspLeuIleValAlaAspSerSerArgLysGluIleLeuHisPheProLysGlyGlyGlyTyrSerValLeuIleArgGluGlyLeuThrCysProValGlyIleAlaLeuThrProLysGlyGlnLeuLeuValLeuAspCysTrpAspHisCysIleLysIleTyrSerTyrHisLeuArgArgTyrSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721900" }, { "@id": "http://reg.genome.network/allele/PA2828806324", "coordinates": [ { "allele": "A", "end": 684, "referenceAllele": "T", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN016380", "geneNCBI_id": 22954, "geneSymbol": "TRIM32", "hgvs": [ "NM_001379050.1:c.509T>A" ], "proteinEffect": { "hgvs": "NP_001365979.1:p.Leu170Ter", "hgvsWellDefined": "NP_001365979.1:p.Leu170_Pro653delinsGluGlyValSerLysAspLeuGlnAlaArgTyrLysAlaValLeuGlnGluTyrGlyHisGluGluArgArgValGlnAspGluLeuAlaArgSerArgLysPhePheThrGlySerLeuAlaGluValGluLysSerAsnSerGlnValValGluGluGlnSerTyrLeuLeuAsnIleAlaGluValGlnAlaValSerArgCysAspTyrPheLeuAlaLysIleLysGlnAlaAspValAlaLeuLeuGluGluThrAlaAspGluGluGluProGluLeuThrAlaSerLeuProArgGluLeuThrLeuGlnAspValGluLeuLeuLysValGlyHisValGlyProLeuGlnIleGlyGlnAlaValLysLysProArgThrValAsnValGluAspSerTrpAlaMetGluAlaThrAlaSerAlaAlaSerThrSerValThrPheArgGluMetAspMetSerProGluGluValValAlaSerProArgAlaSerProAlaLysGlnArgGlyProGluAlaAlaSerAsnIleGlnGlnCysLeuPheLeuLysLysMetGlyAlaLysGlySerThrProGlyMetPheAsnLeuProValSerLeuTyrValThrSerGlnGlyGluValLeuValAlaAspArgGlyAsnTyrArgIleGlnValPheThrArgLysGlyPheLeuLysGluIleArgArgSerProSerGlyIleAspSerPheValLeuSerPheLeuGlyAlaAspLeuProAsnLeuThrProLeuSerValAlaMetAsnCysGlnGlyLeuIleGlyValThrAspSerTyrAspAsnSerLeuLysValTyrThrLeuAspGlyHisCysValAlaCysHisArgSerGlnLeuSerLysProTrpGlyIleThrAlaLeuProSerGlyGlnPheValValThrAspValGluGlyGlyLysLeuTrpCysPheThrValAspArgGlySerGlyValValLysTyrSerCysLeuCysSerAlaValArgProLysPheValThrCysAspAlaGluGlyThrValTyrPheThrGlnGlyLeuGlyLeuAsnLeuGluAsnArgGlnAsnGluHisHisLeuGluGlyGlyPheSerIleGlySerValGlyProAspGlyGlnLeuGlyArgGlnIleSerHisPhePheSerGluAsnGluAspPheArgCysIleAlaGlyMetCysValAspAlaArgGlyAspLeuIleValAlaAspSerSerArgLysGluIleLeuHisPheProLysGlyGlyGlyTyrSerValLeuIleArgGluGlyLeuThrCysProValGlyIleAlaLeuThrProLysGlyGlnLeuLeuValLeuAspCysTrpAspHisCysIleLysIleTyrSerTyrHisLeuArgArgTyrSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721901" }, { "@id": "http://reg.genome.network/allele/PA645381086", "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "T", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN016380", "geneNCBI_id": 22954, "geneSymbol": "TRIM32", "hgvs": [ "NM_012210.4:c.509T>A" ], "proteinEffect": { "hgvs": "NP_036342.2:p.Leu170Ter", "hgvsWellDefined": "NP_036342.2:p.Leu170_Pro653delinsGluGlyValSerLysAspLeuGlnAlaArgTyrLysAlaValLeuGlnGluTyrGlyHisGluGluArgArgValGlnAspGluLeuAlaArgSerArgLysPhePheThrGlySerLeuAlaGluValGluLysSerAsnSerGlnValValGluGluGlnSerTyrLeuLeuAsnIleAlaGluValGlnAlaValSerArgCysAspTyrPheLeuAlaLysIleLysGlnAlaAspValAlaLeuLeuGluGluThrAlaAspGluGluGluProGluLeuThrAlaSerLeuProArgGluLeuThrLeuGlnAspValGluLeuLeuLysValGlyHisValGlyProLeuGlnIleGlyGlnAlaValLysLysProArgThrValAsnValGluAspSerTrpAlaMetGluAlaThrAlaSerAlaAlaSerThrSerValThrPheArgGluMetAspMetSerProGluGluValValAlaSerProArgAlaSerProAlaLysGlnArgGlyProGluAlaAlaSerAsnIleGlnGlnCysLeuPheLeuLysLysMetGlyAlaLysGlySerThrProGlyMetPheAsnLeuProValSerLeuTyrValThrSerGlnGlyGluValLeuValAlaAspArgGlyAsnTyrArgIleGlnValPheThrArgLysGlyPheLeuLysGluIleArgArgSerProSerGlyIleAspSerPheValLeuSerPheLeuGlyAlaAspLeuProAsnLeuThrProLeuSerValAlaMetAsnCysGlnGlyLeuIleGlyValThrAspSerTyrAspAsnSerLeuLysValTyrThrLeuAspGlyHisCysValAlaCysHisArgSerGlnLeuSerLysProTrpGlyIleThrAlaLeuProSerGlyGlnPheValValThrAspValGluGlyGlyLysLeuTrpCysPheThrValAspArgGlySerGlyValValLysTyrSerCysLeuCysSerAlaValArgProLysPheValThrCysAspAlaGluGlyThrValTyrPheThrGlnGlyLeuGlyLeuAsnLeuGluAsnArgGlnAsnGluHisHisLeuGluGlyGlyPheSerIleGlySerValGlyProAspGlyGlnLeuGlyArgGlnIleSerHisPhePheSerGluAsnGluAspPheArgCysIleAlaGlyMetCysValAspAlaArgGlyAspLeuIleValAlaAspSerSerArgLysGluIleLeuHisPheProLysGlyGlyGlyTyrSerValLeuIleArgGluGlyLeuThrCysProValGlyIleAlaLeuThrProLysGlyGlnLeuLeuValLeuAspCysTrpAspHisCysIleLysIleTyrSerTyrHisLeuArgArgTyrSerThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727851", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450136.2:c.509T>A" }, "RefSeq": { "hgvs": "NM_012210.4:c.509T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000408292.1:p.Leu170Ter" }, "RefSeq": { "hgvs": "NP_036342.2:p.Leu170Ter" } } } } ], "type": "nucleotide" }