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: CHM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016884731.1:p.[Thr175_Gly176insGluLysGluAsnHisCysAspAspLysThrCysValProSerThrSerAlaGluAspMetSerGluAsnValProIleAlaGluAspThrThrGluGlnProLysLysAsnArgIleThrTyrSerGlnIleIleLysGlu;Gly176_Glu177insArgArgPheAsnIleAspLeuValSerLysLeuLeuTyrSerArgGlyLeuLeuIleAspLeuLeuIleLysSerAsnValSerArgTyrAla;Glu177_Lys178insPhe;Lys178_Glu179insAsnIleThrArgIleLeuAlaPheArgGluGlyArgValGluGlnValProCysSerArgAlaAspValPheAsnSerLysGlnLeuThrMetValGluLysArgMetLeuMetLysPheLeuThrPheCysMetGluTyrGluLysTyrProAspGluTyrLysGlyTyrGluGluIleThrPheTyrGluTyrLeuLysThrGlnLysLeuThrProAsnLeuGlnTyrIleValMetHisSerIleAlaMetThrSerGluThrAlaSerSerThrIleAspGlyLeuLysAlaThrLysAsnPheLeuHisCysLeuGlyArgTyrGlyAsnThrProPheLeuPheProLeuTyrGlyGlnGlyGluLeuProGlnCysPheCysArgMetCysAlaValPheGlyGlyIleTyrCysLeuArgHisSerValGlnCysLeuValValAspLysGluSerArgLysCysLysAlaIleIleAspGlnPheGlyGlnArgIleIleSerGluHisPheLeuValGluAspSerTyrPheProGluAsnMetCysSerArgValGlnTyrArgGlnIleSerArgAlaValLeuIleThrAspArgSerValLeuLysThrAspSerAspGlnGlnIleSerIleLeuThrValProAlaGluGluProGlyThrPheAlaValArgValIleGluLeuCysSerSerThrMetThrCysMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnGluLeuProLeuLeuLeuLeuArgSerIleValLysTerGlu]