HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000354961.2:p.[Asp59_Arg135delinsProLeuThrThrProLeuLeuIleLeuThrThr;Asn138_Ala145delinsGlnProGluArgLeuAsnAlaGlyThrTyrPheLeuPheTyrThrLeuValGlySerLeuProLeuLeuIleAlaLeuIleTyrThrHisAsnThrLeuGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Thr147_Ile244delinsTyrPheLeuPheTyrThrLeuValGlySerLeuProLeuLeuIleAlaLeuIleTyrThrHisAsnThrLeuGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Leu246del;Ile271_Thr305delinsThrSerSerIleCysLeuArgGlnThrAspLeuLysSerLeuIleAlaTyrSerSerIleSerHisIleAlaLeuValValThrAlaIleLeuIleGlnThrProTer;Ter307_Ile314delinsSerPheThrGlyAlaValIleLeuIleIleAlaHisGlyLeuThrSerSerLeuLeuPheCysLeuAlaAsnSerAsnTyrGluArgThrHisSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Ile317_Leu321delinsAlaHisGlyLeuThrSerSerLeuLeuPheCysLeuAlaAsnSerAsnTyrGluArgThrHisSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Ser324_Arg336delinsLeuLeuPheCysLeuAlaAsnSerAsnTyrGluArgThrHisSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;His338_Leu352delinsSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Ile355_Ter358delinsAlaPhe;Leu361_Thr372delinsAlaSerLeuAlaAsnLeuAlaLeuProProThrIleAsnLeuLeuGlyGluLeuSerValLeuValThrThrPheSerTer;Asn374delinsLeuLeuGlyGluLeuSerValLeuValThrThrPheSerTer;Leu376_Val383delinsGlyGluLeuSerValLeuValThrThrPheSerTer;Phe386_Ser387delinsSerTer;Ser389_Ile391del;Leu395_Asn399del;Val402del;Ala404_Phe411del;Thr413_X460del] |