This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: EIF2AK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005264706.1:p.[Val568_Arg569insSer;Arg569_Ser570insGluArgThr;Ser570_Arg571insSerSerIleValPheGluAspSerGlyCysAspAsnAlaSerSerLysGluGluProLysThrAsn;Arg571_Glu572insLeuHisIleGlyAsnHisCysAlaAsnLysLeuThrAlaPheLysProThrSerSerLysSerSerSer;Glu572_Arg573insAlaThrLeuSerIleSerProPro;Arg573_Thr574insPro;Thr574_Ser575insThrLeu;Ser575_Ser576insLeuAspLeuThrLysAsnThrThrGluLysLeuGlnProSerSerProLysValTyrLeuTyrIleGlnMetGlnLeuCysArgLysGluAsnLeuLysAspTrpMetAsnGlyArgCysThrIleGluGluArgGluArgSerValCysLeuHisIlePheLeuGlnIleAlaGluAlaValGluPheLeuHisSerLysGlyLeuMetHisArgAspLeuLysProSerAsnIlePhePheThrMetAspAspValValLysValGlyAspPheGlyLeuValThrAlaMetAspGlnAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTerThr]