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: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499475.1:p.[Pro357Arg;Gly359_Gly360delinsGlnProArg;Phe362_Ala363delinsArgArg;Glu365_Ser367delinsGlnLeuArg;Thr369_Gly372delinsArgAlaLeuProAsp;Pro373dup;Arg374_Pro375insSerAla;Gly377_Ala382delinsTrpProArgLeuArgArg;Asp384_Gly385delinsArgTrpPro]
CA10581460
ENST00000664402.2:c.1052_1067dup