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
ENSP00000489407.1:p.[Arg1248_Gln1250delinsLeuValAla;Pro1252_Gly1254delinsArgGln;Ala1257_Asp1258delinsGlyGln;Gly1260_Gly1262delinsArgAlaAla;Gly1264_Ser1265delinsArgLys;Glu1267_Glu1271delinsGlnSerTrpCys;Val1273_Asn1277del;Pro1279_Ala1281del]
CA10603393
ENST00000445220.5:c.3743_3755del