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.[Pro605_Asp611delinsGlnThrHisProThrGlnGly;Val613_Gly615delinsSerTrpTrpIleLeu;Tyr618_Trp619delinsAlaSerCys;Asp621_Trp622delinsGlyLeuThr;Thr624delinsGluLeu;Ala626_Lys629delinsProArgSerArg;Gly632_Asn634delinsAla]
CA2813598415
ENST00000252444.10:c.1813_1814insAAACACACCCAACA