HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000354554.2:p.[Asn8delinsArgProLeuIleLysLeuIleAsnHisSerPheIleAspLeuProThrProSerAsnIleSerAlaTer;Ter31_Ser56delinsProAsnPheGlySerLeuLeuGlyAlaCysLeuIleLeuGlnIleThrThrGlyLeuPheLeuAlaMetHisTyrSerProAspAlaSerThrAlaPheSerSerIleAlaHisIleThrArgAspValAsnTyrGlyTer;Asp58_Val73delinsAlaSerThrAlaPheSerSerIleAlaHisIleThrArgAspValAsnTyrGlyTer;Tyr75del;Ile79_Tyr81delinsLysArgTyrLeuHisAlaAsnGlyAlaSerIlePhePheIleCysLeuPheLeuHisIleGlyArgGlyLeuTyrTyrGlySerPheLeuTyrSerGluThrTer;His83_Ala84delinsIleAlaAsnGlyAlaSerIlePhePheIleCysLeuPheLeuHisIleGlyArgGlyLeuTyrTyrGlySerPheLeuTyrSerGluThrTer;Gly86_Leu96delinsAlaSerIlePhePheIleCysLeuPheLeuHisIleGlyArgGlyLeuTyrTyrGlySerPheLeuTyrSerGluThrTer;Ile98_Gly105delinsGlyArgGlyLeuTyrTyrGlySerPheLeuTyrSerGluThrTer;Leu108_Asn114delinsTyrSerGluThrTer;Gly116_Ile118delinsAspIleIleLeuLeuLeuAlaThrIleAlaThrAlaPheIleGlyTyrValLeuProTer;Leu120_Ala122delinsProLeuAlaThrIleAlaThrAlaPheIleGlyTyrValLeuProTer;Ile124_Leu133delinsAlaThrAlaPheIleGlyTyrValLeuProTer;Ter135_Ile138delinsGlyGlnIleSerPheTer;Phe140_Val145delinsAsnTer;Thr147_Leu150delinsAsnLeuLeuSerAlaIleProTyrIleGlyThrAspLeuValGlnTer;Ile153_Gln162delinsProTyrIleGlyThrAspLeuValGlnTer;Ile164_Phe183delinsLysTer;Leu185_Ser205delinsProPheIleIleAlaAlaLeuAlaThrLeuHisLeuLeuPheLeuHisGluThrGlySerAsnAsnProLeuGlyIleThrSerHisSerAspLysIleThrPheHisProTyrTyrThrIleLysAspAlaLeuGlyLeuLeuLeuPheLeuLeuSerLeuMetThrLeuThrLeuPheSerProAspLeuLeuGlyAspProAspAsnTyrThrLeuAlaAsnProLeuAsnThrProProHisIleLysProGluTer;Asn207_Ser213delinsProLeuGlyIleThrSerHisSerAspLysIleThrPheHisProTyrTyrThrIleLysAspAlaLeuGlyLeuLeuLeuPheLeuLeuSerLeuMetThrLeuThrLeuPheSerProAspLeuLeuGlyAspProAspAsnTyrThrLeuAlaAsnProLeuAsnThrProProHisIleLysProGluTer;Asp216_Thr219delinsLysIleThrPheHisProTyrTyrThrIleLysAspAlaLeuGlyLeuLeuLeuPheLeuLeuSerLeuMetThrLeuThrLeuPheSerProAspLeuLeuGlyAspProAspAsnTyrThrLeuAlaAsnProLeuAsnThrProProHisIleLysProGluTer;His221_Thr225delinsProTyrTyrThrIleLysAspAlaLeuGlyLeuLeuLeuPheLeuLeuSerLeuMetThrLeuThrLeuPheSerProAspLeuLeuGlyAspProAspAsnTyrThrLeuAlaAsnProLeuAsnThrProProHisIleLysProGluTer;Lys227delinsAspAlaLeuGlyLeuLeuLeuPheLeuLeuSerLeuMetThrLeuThrLeuPheSerProAspLeuLeuGlyAspProAspAsnTyrThrLeuAlaAsnProLeuAsnThrProProHisIleLysProGluTer;Ala229delinsLeuGlyLeuLeuLeuPheLeuLeuSerLeuMetThrLeuThrLeuPheSerProAspLeuLeuGlyAspProAspAsnTyrThrLeuAlaAsnProLeuAsnThrProProHisIleLysProGluTer;Gly231_Ser246delinsLeuLeuLeuPheLeuLeuSerLeuMetThrLeuThrLeuPheSerProAspLeuLeuGlyAspProAspAsnTyrThrLeuAlaAsnProLeuAsnThrProProHisIleLysProGluTer;Asp248_Tyr256delinsLeuLeuGlyAspProAspAsnTyrThrLeuAlaAsnProLeuAsnThrProProHisIleLysProGluTer;Leu258_Asn260delinsAlaAsnProLeuAsnThrProProHisIleLysProGluTer;Leu262_Arg282delinsAsnThrProProHisIleLysProGluTer;Val284_Pro285delinsProAsnLysLeuGlyGlyValLeuAlaLeuLeuLeuSerIleLeuIleLeuAlaIleIleProIleLeuHisIleSerLysGlnGlnSerIleIlePheArgProLeuSerGlnSerLeuTyrTer;Lys287_Ser297delinsLeuGlyGlyValLeuAlaLeuLeuLeuSerIleLeuIleLeuAlaIleIleProIleLeuHisIleSerLysGlnGlnSerIleIlePheArgProLeuSerGlnSerLeuTyrTer;Leu299_Ile309delinsIleLeuAlaIleIleProIleLeuHisIleSerLysGlnGlnSerIleIlePheArgProLeuSerGlnSerLeuTyrTer;Lys311_Leu328delinsGlnGlnSerIleIlePheArgProLeuSerGlnSerLeuTyrTer;Ala330_Thr336delinsAspLeuLeuIleLeuThrTer;Gly339_Val343delinsAsn;Tyr345_Pro346del;Thr348del;Ile350_Val356delinsAsp;Tyr358_Phe359delinsPro;Thr361_Ile366del;Thr368_Ile369del;Leu371_Glu373del;Lys375del;Leu377_Trp379delinsSer;X381del] |