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
ENSP00000507624.1:p.[Lys1968_Lys1970delinsAsnProArg;Leu1972Arg;Lys1974_Ser1977del;Gly1979Gln;Thr1981_Phe1990del;Asp1992_Ile1995del;Lys1997del]
CA2078628398
ENST00000683270.1:c.5903_5904insCCCA