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
ENSP00000489407.2:p.[Glu467_Arg468delinsSerAsp;Lys470_Arg471delinsSerAlaGly;Pro473Gly;Pro476_Gly477delinsAla;Asp479_Ser480delinsThrAla;Tyr482_Gly486delinsThrProThrTrp;Phe488Pro;Ser491_Ser496delinsProAlaSerSerLeuArg]
CA2580099945
ENST00000445220.7:c.1398del