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: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000414876.2:p.Ser257_Ter258insGlyAlaProSerGlnValHisGlyAlaArgArgSerProSerLeuPheAlaProAlaProProSerProSerProCysArgAlaGlyProProThrMetLysAlaGlyProGlnGluGlnAspValProGlnAlaLeuTrpSerArgGlnGlnArg
CA381676873
ENST00000412252.6:c.772T>G