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
ENSP00000499270.1:p.[Ser1179_Leu1182del;Gly1184_Ala1188delinsTrp;Arg1190del;Arg1192_Ser1195delinsIleTrpLeuGlu;Ile1198_Leu1199delinsGlyThr;Gln1201_Pro1207del]
CA2792603589
ENST00000659264.1:c.3533dup