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.[Pro306_Ser310delinsAlaAlaAlaAlaArg;Tyr312_Asn314delinsArgGlnPro;Gly316_Ala324delinsArgGlnProGlyArgLeuGlnArgGln;Ser326_Pro328delinsLeuArgSerVal;Arg330_Ser333delinsAlaAlaAlaProGlnGluPro]
CA2549124200
ENST00000664402.2:c.911_912insACCTGCTGCT