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
ENSP00000507173.1:p.[Phe3247_Glu3250delinsLeuGlnVal;Trp3252del;Lys3254_Trp3257delinsGlyLeuArgMet;Phe3259Gly;Ser3261_Ser3263delinsLeuLeu;Ser3265_Glu3268delinsAsnLeu;Gln3270_Asp3278del]
CA2622328918
ENST00000682944.1:c.9741del