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
XP_011533340.1:p.[Glu2065_Thr2067delinsLysThrHis;Ser2069_Gln2072delinsGlnArgAsnSer;Ser2075_Val2077delinsLeuLysCys;Pro2080_Glu2088delinsGlnIlePheLysLysLeuLysGlnAsn;Arg2090_Pro2092delinsGluIle;Met2094del]
CA2575369469
XM_011535038.1:c.6192del