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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000354982.2:p.[Leu124delinsProAsnProLeuGluValProLeuLeuAsnThrSerValLeuLeuAlaSerGlyValSerIleThrTer;Ter146_Ala147insProArgSerGluValProLeuLeuAsnThrSerValLeuLeu;Ala147_His148insSerGlyValSerIleThrTerProThrProLys;His148_His149insIleArgIleThrArgIleArgLeuAsnThrSerValLeuLeuAlaSerGlyValSerIleThrTerSerIleAsnTer;His149_Ser150insLeu;Ter240_Tyr241insSerSerProIleGluAsnAsnArgAsnGlnIleIleGlnAlaLeuLeuIleThrIleLeuLeuGlyLeu;Trp242_His243delinsPheThrLeuLeuGlnAlaSerGluTyrHisPheValAspValValTer;Val245delinsGluSerProPheThrIleSerAspValValTer;Val247delinsGlyIleTyrGlySerThrPhePheValTer;Ter249_Leu250delinsAlaThrGlyLeuPheLeuTyrValSerIleTyrTer;Phe251_Leu252insHisGly;Tyr253delinsHisValSerIleTyrTer;Val254_Ser255insIleIleGly;Ser255_Ile256insThrPheLeuThr;Tyr257_Gly260delinsCysPheIleArgGlnLeuIlePheHisPheThrTer;X262delinsLysHisHisPheGlyPheGluAlaAlaAla] |