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: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508403.1:p.[Glu573_Gln574delinsAlaGly;Tyr576_Glu579del;Asp581_Asn583del;Glu585_Tyr586delinsArg;Thr589_Lys603del]
CA2580086856
ENST00000683489.1:c.1716_1717del