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
ENSP00000386491.1:p.[Pro1066_Gly1074delinsArgAspHisGluHisHisLeuArgTyr;Arg1076_Arg1085delinsGluHisAspGlyHisLeuHisCysSer;Gly1087_Ser1096delinsArgHisLeuProAlaHisHisProAlaGlu]
CA2573147657
ENST00000409161.5:c.3197_3198del