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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000473540.1:p.[His188_Leu189insArg;Leu189_Arg190insLysGluHisIleAsp;Arg190_Leu191insLysPheValProPheArgLys;Leu191_Lys192insGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIlePro;Lys192_Glu193insAspProMetHisPheVal;Glu193_His194insGluValPro;His194_Ile195insSerArgPhe;Ile195_Asp196insGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeu;Asp196_Arg197insAspAsnThrValGluAlaValAlaPhe;Lys198_Phe199insSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValPro;Phe199_Val200insTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAsp;Val200_Pro201insAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTerPhe] |