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"ENSP00000380891.3:p.Gln320_Ile590delinsMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247214" }, { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "ENST00000403435.5:c.958C>T" ], "proteinEffect": { "hgvs": "ENSP00000384029.1:p.Gln320Ter", "hgvsWellDefined": "ENSP00000384029.1:p.Gln320_Ile561delinsMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" 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"XP_016884299.1:p.Gln282_Ile552delinsMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578469" }, { "@id": "http://reg.genome.network/allele/PA252692", "coordinates": [ { 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"NP_000259.1:p.Gln320_Leu595delinsMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674769", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000338641.10:c.958C>T" }, "RefSeq": { "hgvs": "NM_000268.4:c.958C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344666.5:p.Gln320Ter" }, "RefSeq": { "hgvs": "NP_000259.1:p.Gln320Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA252694", "coordinates": [ { "allele": "T", "end": 1324, "referenceAllele": "C", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181825.3:c.958C>T" ], "proteinEffect": { "hgvs": "NP_861546.1:p.Gln320Ter", "hgvsWellDefined": "NP_861546.1:p.Gln320_Ile590delinsMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701021" }, { "@id": "http://reg.genome.network/allele/PA252690", "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181828.3:c.832C>T" ], "proteinEffect": { "hgvs": "NP_861966.1:p.Gln278Ter", "hgvsWellDefined": "NP_861966.1:p.Gln278_Ile548delinsMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701022" }, { "@id": "http://reg.genome.network/allele/PA252691", "coordinates": [ { "allele": "T", "end": 1201, "referenceAllele": "C", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181829.3:c.835C>T" ], "proteinEffect": { "hgvs": "NP_861967.1:p.Gln279Ter", "hgvsWellDefined": "NP_861967.1:p.Gln279_Ile549delinsMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701023" }, { "@id": "http://reg.genome.network/allele/PA252688", "coordinates": [ { "allele": "T", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181830.3:c.709C>T" ], "proteinEffect": { "hgvs": "NP_861968.1:p.Gln237Ter", "hgvsWellDefined": "NP_861968.1:p.Gln237_Ile507delinsMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701024" }, { "@id": "http://reg.genome.network/allele/PA252689", "coordinates": [ { "allele": "T", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181831.3:c.709C>T" ], "proteinEffect": { "hgvs": "NP_861969.1:p.Gln237Ter", "hgvsWellDefined": "NP_861969.1:p.Gln237_Ile507delinsMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701025" }, { "@id": "http://reg.genome.network/allele/PA252695", "coordinates": [ { "allele": "T", "end": 1324, "referenceAllele": "C", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181832.3:c.958C>T" ], "proteinEffect": { "hgvs": "NP_861970.1:p.Gln320Ter", "hgvsWellDefined": "NP_861970.1:p.Gln320_Ile590delinsMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701026" }, { "coordinates": [ { "allele": "T", "end": 1440, "referenceAllele": "C", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NR_156186.2:n.1440C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704957" }, { "coordinates": [ { "allele": "T", "end": 813, "endIntronDirection": "+", "endIntronOffset": 26120, "referenceAllele": "C", "start": 813, "startIntronDirection": "+", "startIntronOffset": 26119 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181833.3:c.447+26120C>T" ], "proteinEffect": { "hgvs": "NP_861971.1:n.447+26120C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS729746" } ], "type": "nucleotide" }