Canonical Allele Identifier: CA16602352
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375839
ClinVar RCV Id: RCV000417363
dbSNP Id: rs1057519689

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129525_11129526del , CM000681.2:g.11129525_11129526del GRCh38
NC_000019.9:g.11240201_11240202del , CM000681.1:g.11240201_11240202del GRCh37
NC_000019.8:g.11101201_11101202del NCBI36
NG_009060.1:g.45145_45146del , LRG_274:g.45145_45146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2660_2661del ENSP00000252444.6:p.Phe887SerfsTer15
ENST00000559340.2:c.*471_*472del ENSP00000453696.2:n.*471_*472del
ENST00000560467.2:c.2282_2283del ENSP00000453513.2:p.Phe761SerfsTer15
ENST00000558518.6:c.2402_2403del MANE Select ENSP00000454071.1:p.Phe801SerfsTer15
ENST00000252444.9:c.2656_2657del
ENST00000455727.6:c.1898_1899del ENSP00000397829.2:p.Phe633SerfsTer15
ENST00000535915.5:c.2279_2280del ENSP00000440520.1:p.Phe760SerfsTer15
ENST00000545707.5:c.1868_1869del ENSP00000437639.1:p.Phe623SerfsTer15
ENST00000557933.5:c.2464_2465del ENSP00000453557.1:p.Ser822LeufsTer?
ENST00000558013.5:c.2402_2403del ENSP00000453346.1:p.Phe801SerfsTer15
ENST00000558518.5:c.2402_2403del ENSP00000454071.1:p.Phe801SerfsTer15
ENST00000560628.1:n.108+1871_108+1872del
NM_000527.4:c.2402_2403del , LRG_274t1:c.2402_2403del NP_000518.1:p.Phe801SerfsTer15
NM_001195798.1:c.2402_2403del NP_001182727.1:p.Phe801SerfsTer15
NM_001195799.1:c.2279_2280del NP_001182728.1:p.Phe760SerfsTer15
NM_001195800.1:c.1898_1899del NP_001182729.1:p.Phe633SerfsTer15
NM_001195803.1:c.1868_1869del NP_001182732.1:p.Phe623SerfsTer15
XM_011528010.1:c.2324_2325del XP_011526312.1:p.Phe775SerfsTer15
XM_011528011.1:c.2021_2022del XP_011526313.1:p.Phe674SerfsTer15
XR_244074.2:n.2412_2413del
XM_011528010.2:c.2324_2325del XP_011526312.1:p.Phe775SerfsTer15
XR_001753685.2:n.2736_2737del
XR_001753686.2:n.2379_2380del
NM_000527.5:c.2402_2403del MANE Select NP_000518.1:p.Phe801SerfsTer15
NM_001195798.2:c.2402_2403del NP_001182727.1:p.Phe801SerfsTer15
NM_001195799.2:c.2279_2280del NP_001182728.1:p.Phe760SerfsTer15
NM_001195800.2:c.1898_1899del NP_001182729.1:p.Phe633SerfsTer15
NM_001195803.2:c.1868_1869del NP_001182732.1:p.Phe623SerfsTer15