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: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Val381_Glu394delinsSerAlaThrTrpLeuGluThrAlaGlyThrGlyGlnMetAsn;Ile396Ser;Glu398_Cys399delinsSerAla;Gly400_Thr401insPro;Glu403_Gly410delinsAlaTrpThrThrThrAlaAla]
CA1139666261
ENST00000252444.10:c.1141del