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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000354554.2:p.[Leu262delinsHisProSerAsnThrProProHisIleLysProGluTer;Tyr273delinsProHisIleLysProGluTerHisGlnAlaArgMetIleLysProGluTerPheLeuPheAlaTyrThrIleLeuArgSerValProAsnLysLeuGlyGlyValLeuAlaLeuLeuLeuSerIleLeuIleLeuAlaIleIleProIleLeuHisIleSerLysGlnGlnSerIleIlePheArgProLeuSerGlnSerLeuTyrTer;Leu275delinsProPheAlaTyrThrIleLeuArgSerValProAsnLysLeuGlyGlyValLeuAlaLeuLeuLeuSerIleLeuIleLeuAlaIleIleProIleLeuHisIleSerLysGlnGlnSerIleIlePheArgProLeuSerGlnSerLeuTyrTer;Ter326_Leu327insIleArgSerValProAsnLys;Leu327_Leu328insGlyGlyVal;Ala330_Asp331delinsLeuLeuAspLeuLeuIleLeuThrTer;Leu332_Leu333insSerIle;Thr336delinsAlaIle;Gly339_Gly340delinsProIleLeuHisIleSerLys;Gln341_Pro342insGlnSerIleIlePheArg;Val343Leu;Ser344_Tyr345insGlnSerLeu;Pro346_Ile350delinsTerArgLeuHisValProAsnLysLeu;Gln352Gly;Val353_Ala354insLeu;Ala354_Ser355insLeuLeuLeu;Val356Ile;Tyr358_Thr361delinsIleLeuAlaIle;Leu363Pro;Leu365_Ile366insHis;Ile366_Pro367insSerLysGlnGlnSerIleIlePheArg;Thr368delinsLeuSerGlnSerLeuTyrTerAsnSerPro;Ile369_Ser370insArgProLeuGlyGlyValLeuAlaLeuLeuLeu;Ser370_Leu371insIle;Glu373_Lys375delinsLeuAlaIle;Ile376_Leu377insProIle;Leu377_Lys378insHisIleSer;Trp379_X381delinsGlnGlnSerIleIlePheArgProLeuSerGlnSerLeuTyr] |