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Canonical Allele Identifier: Get Identifier
Gene: ECM1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_073155.2:p.[Gln30_Arg31insGlnLeu;Arg31_Gln32insProGluHisPhe;Gln32_Leu33insGluValGlyTyrAlaAlaProProSerProPro;Leu33_Arg34insSer;Arg34_Pro35insSerLeu;Pro35_Glu36insMetAspHisProAspSerSerGlnHisGlyProProPhe;Glu36_His37insGlyGlnSerGlnValGlnProProProSerGlnGluAlaThrProLeuGlnGlnGluLysLeuLeuProAlaGlnLeuProAlaGluLysGluValGlyProProLeuProGlnGluAlaValProLeuGlnLysGluLeuProSerLeuGln;His37_Phe38insProAsnGluGlnLysGluGlyThrProAlaPro;Phe38_Gln39insGlyAsp;Gln39_Glu40insSerHisPro;Glu40_Val41insProGluSerTrpAsnAlaAlaGlnHisCysGlnGlnAspArgSerGlnGlyGlyTrpGlyHisArgLeuAspGlyPheProProGlyArgProSerProAspAsnLeuAsnGlnIleCysLeuProAsnArgGlnHis;Val41_Gly42insValTyr;Gly42_Tyr43insProTrpAsnLeuProGlnSerSer;Tyr43_Ala44insSerHisLeuThrArgGlnGlyGluThrLeuAsnPheLeuGluIleGlyTyrSerArgCysCysHisCysArgSerHisThrAsnArgLeuGluCys;Ala44_Ala45insLysLeuValTrpGluAspThrLeuAspLysTyrCysAspArgGluTyr;Ala45_Pro46insValLysThrHisHisHisLeuCysCysArgHis;Pro49_Pro50insThrArgAspGluCysPheAlaArgArgAlaProTyrProAsnTyrAspArgAspIleLeuThrIleAspIleGlyArgValThrProAsnLeuMetGlyHisLeuCysGlyAsnGlnArgValLeuThrLysHisLysHisIleProGlyLeuIleHisAsnMetThrAlaArgCysCysAspLeuProPheProGluGlnAlaCysCysAlaGluGluGluLysLeuThrPheIleAsnAspLeuCysGlyProArgArgAsnIleTrpArgAspProAlaLeuCysCysTyrLeuSerProGlyAspGluGlnValAsnCysPheAsnIleAsnTyrLeuArgAsnValAlaLeuValSerGlyAspThrGluAsnAlaLysGlyGlnGlyGluGlnGlySerThrGlyGlyThrAsnIleSerSerThrSerGluProLysGluGluTerSer]