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: CPLANE1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000426337.1:p.[Arg1718del;Ter1890_Leu1891insHisLeuGluHisLeuSerAlaLysLeuGlnLysIleAspGluGlnLeuLeuAlaIleGlnAsnIleAlaGluAsnIleGluGlnAspPheProLysProGluMetLeuAspLeuHisCysAspLysIleGlyProValAspHisIleGluPheSerSerGlyProGluPheLysLysThrLeuAlaSerLysThrIleSerIleSerGluGluValArgPheLeuThrHisMetAspGluGluAspGlnSerAspLysLysGluThrSerGluProGluPheSerIleThrGluAsnTyrSerGlyGlnLysThrCysValPheProThrAlaAspSerAlaValSerLeuSerSerSerSerAspGlnAsnThrThrSerProValPheGlnTyrIleArgSerArgTer]