Canonical Allele Identifier: CA645509299
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440692
ClinVar RCV Id: RCV000508710
dbSNP Id: rs1555809471

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129517_11129524del , CM000681.2:g.11129517_11129524del GRCh38
NC_000019.9:g.11240193_11240200del , CM000681.1:g.11240193_11240200del GRCh37
NC_000019.8:g.11101193_11101200del NCBI36
NG_009060.1:g.45137_45144del , LRG_274:g.45137_45144del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2652_2659del ENSP00000252444.6:p.Leu885ProfsTer15
ENST00000559340.2:c.*463_*470del ENSP00000453696.2:n.*463_*470del
ENST00000560467.2:c.2274_2281del ENSP00000453513.2:p.Leu759ProfsTer15
ENST00000558518.6:c.2394_2401del MANE Select ENSP00000454071.1:p.Leu799ProfsTer15
ENST00000252444.9:c.2648_2655del
ENST00000455727.6:c.1890_1897del ENSP00000397829.2:p.Leu631ProfsTer15
ENST00000535915.5:c.2271_2278del ENSP00000440520.1:p.Leu758ProfsTer15
ENST00000545707.5:c.1860_1867del ENSP00000437639.1:p.Leu621ProfsTer15
ENST00000557933.5:c.2456_2463del ENSP00000453557.1:p.Ser819PhefsTer?
ENST00000558013.5:c.2394_2401del ENSP00000453346.1:p.Leu799ProfsTer15
ENST00000558518.5:c.2394_2401del ENSP00000454071.1:p.Leu799ProfsTer15
ENST00000560628.1:n.108+1863_108+1870del
NM_000527.4:c.2394_2401del , LRG_274t1:c.2394_2401del NP_000518.1:p.Leu799ProfsTer15
NM_001195798.1:c.2394_2401del NP_001182727.1:p.Leu799ProfsTer15
NM_001195799.1:c.2271_2278del NP_001182728.1:p.Leu758ProfsTer15
NM_001195800.1:c.1890_1897del NP_001182729.1:p.Leu631ProfsTer15
NM_001195803.1:c.1860_1867del NP_001182732.1:p.Leu621ProfsTer15
XM_011528010.1:c.2316_2323del XP_011526312.1:p.Leu773ProfsTer15
XM_011528011.1:c.2013_2020del XP_011526313.1:p.Leu672ProfsTer15
XR_244074.2:n.2404_2411del
XM_011528010.2:c.2316_2323del XP_011526312.1:p.Leu773ProfsTer15
XR_001753685.2:n.2728_2735del
XR_001753686.2:n.2371_2378del
NM_000527.5:c.2394_2401del MANE Select NP_000518.1:p.Leu799ProfsTer15
NM_001195798.2:c.2394_2401del NP_001182727.1:p.Leu799ProfsTer15
NM_001195799.2:c.2271_2278del NP_001182728.1:p.Leu758ProfsTer15
NM_001195800.2:c.1890_1897del NP_001182729.1:p.Leu631ProfsTer15
NM_001195803.2:c.1860_1867del NP_001182732.1:p.Leu621ProfsTer15