HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000354961.2:p.[Asp59_Arg135delinsProLeuThrThrProLeuLeuIleLeuThrThr;Asn138_Ala145delinsGlnProGluArgLeuAsnAlaGlyThrTyrPheLeuPheTyrThrLeuValGlySerLeuProLeuLeuIleAlaLeuIleTyrThrHisAsnThrLeuGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Thr147_Val155delinsTyrPheLeuPheTyrThrLeuValGlySerLeuProLeuLeuIleAlaLeuIleTyrThrHisAsnThrLeuGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Ser157_Leu171delinsLeuProLeuLeuIleAlaLeuIleTyrThrHisAsnThrLeuGlySerLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Ser173_Tyr210delinsLeuAsnIleLeuLeuLeuThrLeuThrAlaGlnGluLeuSerAsnSerTer;Leu212_Ala226delinsHisLeuTer;Ser228_Asn251delinsIleValLeuAlaAlaValLeuLeuLysLeuGlyGlyTyrGlyIleIleArgLeuThrLeuIleLeuAsnProLeuThrLysHisIleAlaTyrProPheLeuValLeuSerLeuTer;Lys255_Ile271delinsHisIleAlaTyrProPheLeuValLeuSerLeuTer;Ser274_Thr305delinsIleCysLeuArgGlnThrAspLeuLysSerLeuIleAlaTyrSerSerIleSerHisIleAlaLeuValValThrAlaIleLeuIleGlnThrProTer;Ter307_Ile314delinsSerPheThrGlyAlaValIleLeuIleIleAlaHisGlyLeuThrSerSerLeuLeuPheCysLeuAlaAsnSerAsnTyrGluArgThrHisSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Ile317_Gly320delinsAlaHisGlyLeuThrSerSerLeuLeuPheCysLeuAlaAsnSerAsnTyrGluArgThrHisSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Thr322_Arg340delinsSerSerLeuLeuPheCysLeuAlaAsnSerAsnTyrGluArgThrHisSerArgIleIleIleLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Ile343delinsLeuSerGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Ser345_Gln349delinsGlnGlyLeuGlnThrLeuLeuProLeuIleAlaPheTer;Leu352_Pro371delinsProLeuIleAlaPheTer;Ile373_X460delinsAsnLeuLeuGlyGluLeuSerValLeuValThrThrPheSerTer] |