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: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016876028.1:p.[Tyr4174_Val4179delinsThrArgGluAsnMetLeu;Tyr4181Thr;Val4183_Tyr4194delinsLeuMetLeuLysValValIleSerMetAspHisThrSer;Pro4196His;Tyr4198_Ile4203delinsHisMetGlnLeuLeu]
CA645591579
XM_017020539.1:c.12520del