HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000354961.2:p.[Asp59_Arg135delinsGlyProLeuThrThrProLeuLeuIleLeuThrThr;Asn138_Glu141delinsGlnProGluArgLeuAsnAlaGlyThrTyrPheLeuPheTyrThrLeuValGlySerLeuProLeuLeuIleAlaLeuIleTyrThrHisAsnThrLeuGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Leu143_Leu158delinsAsnAlaGlyThrTyrPheLeuPheTyrThrLeuValGlySerLeuProLeuLeuIleAlaLeuIleTyrThrHisAsnThrLeuGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Leu161_Tyr166delinsIleAlaLeuIleTyrThrHisAsnThrLeuGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;His168_Asn169delinsAsnThrLeuGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Leu171_Ile207delinsGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Tyr210_Gly211delinsGlyLeuHisLeuTer;His213_Pro224delinsLeuTer;Ala226_Val230delinsGlySerIleValLeuAlaAlaValLeuLeuLysLeuGlyGlyTyrGlyIleIleArgLeuThrLeuIleLeuAsnProLeuThrLysHisIleAlaTyrProPheLeuValLeuSerLeuTer;Ala233_Leu246delinsValLeuLeuLysLeuGlyGlyTyrGlyIleIleArgLeuThrLeuIleLeuAsnProLeuThrLysHisIleAlaTyrProPheLeuValLeuSerLeuTer;Leu248_Leu253delinsIleLeuAsnProLeuThrLysHisIleAlaTyrProPheLeuValLeuSerLeuTer;Lys255_Leu266delinsHisIleAlaTyrProPheLeuValLeuSerLeuTer;Gly268_Ile271delinsIleIleIleThrSerSerIleCysLeuArgGlnThrAspLeuLysSerLeuIleAlaTyrSerSerIleSerHisIleAlaLeuValValThrAlaIleLeuIleGlnThrProTer;Ser274_Thr305delinsIleCysLeuArgGlnThrAspLeuLysSerLeuIleAlaTyrSerSerIleSerHisIleAlaLeuValValThrAlaIleLeuIleGlnThrProTer;Ter307_Ile314delinsSerPheThrGlyAlaValIleLeuIleIleAlaHisGlyLeuThrSerSerLeuLeuPheCysLeuAlaAsnSerAsnTyrGluArgThrHisSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Ile317_Gly320delinsAlaHisGlyLeuThrSerSerLeuLeuPheCysLeuAlaAsnSerAsnTyrGluArgThrHisSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Thr322_Arg340delinsSerSerLeuLeuPheCysLeuAlaAsnSerAsnTyrGluArgThrHisSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Ile343delinsLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Ser345_Gln349delinsGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Leu352_Pro371delinsProLeuIleAlaPheTer;Ile373_X460delinsAsnLeuLeuGlyGluLeuSerValLeuValThrThrPheSerTer] |