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
ENSP00000453513.2:p.[Pro479_Asp485delinsGlnThrHisProThrGlnGly;Val487_Gly489delinsSerTrpTrpIleLeu;Tyr492_Trp493delinsAlaSerCys;Asp495_Trp496delinsGlyLeuThr;Thr498delinsGluLeu;Ala500_Lys503delinsProArgSerArg;Gly506_Asn508delinsAla]
CA2813598415
ENST00000560467.2:c.1435_1436insAAACACACCCAACA