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
NP_573573.2:p.[Ile1180_Gln1182delinsSerGlnSer;Pro1184del;Asn1187_His1196delinsLeuLeuGlnLeuAsn;Trp1198Ser;Lys1200_Asp1205delinsCysGlyLeuAsnGlnMet;Leu1207_Leu1212delinsProIleGlyTrpLysVal]
CA600241157
NM_133266.5:c.3537_3546del