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.[Lys689_Ser692delinsHisSerArgLysAsp;Val695_His699delinsHisAsnHisPro;Thr701_Thr702delinsCysSer;Pro704_Val705delinsHisLeu;Asp707_Leu711delinsAlaAlaTrpGlyHis;Gly713Trp;Thr715_Pro716delinsHisHis;Leu718_Val721del]
CA10585802
ENST00000535915.5:c.2064_2074del