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
ENSP00000440520.1:p.[Lys477_Gly488delinsLeuAsnGlyGlnGlyProSerTrpTrpIleLeu;Tyr491_Trp492delinsAlaSerCys;Asp494_Trp495delinsGlyLeuThr;Thr497delinsGluLeu;Ala499_Lys502delinsProArgSerArg;Gly505_Leu506delinsAla]
CA2573050603
ENST00000535915.5:c.1429_1430delinsCTGAATG