Canonical Allele Identifier: CA1139654948
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129520_11129534del , CM000681.2:g.11129520_11129534del GRCh38
NC_000019.9:g.11240196_11240210del , CM000681.1:g.11240196_11240210del GRCh37
NC_000019.8:g.11101196_11101210del NCBI36
NG_009060.1:g.45140_45154del , LRG_274:g.45140_45154del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2655_2669del ENSP00000252444.6:p.Val886_Leu890del
ENST00000559340.2:c.*466_*480del ENSP00000453696.2:n.*466_*480del
ENST00000560467.2:c.2277_2291del ENSP00000453513.2:p.Val760_Leu764del
ENST00000558518.6:c.2397_2411del MANE Select ENSP00000454071.1:p.Val800_Leu804del
ENST00000252444.9:c.2651_2665del
ENST00000455727.6:c.1893_1907del ENSP00000397829.2:p.Val632_Leu636del
ENST00000535915.5:c.2274_2288del ENSP00000440520.1:p.Val759_Leu763del
ENST00000545707.5:c.1863_1877del ENSP00000437639.1:p.Val622_Leu626del
ENST00000557933.5:c.2459_2473del ENSP00000453557.1:p.Ser820_Ala824del
ENST00000558013.5:c.2397_2411del ENSP00000453346.1:p.Val800_Leu804del
ENST00000558518.5:c.2397_2411del ENSP00000454071.1:p.Val800_Leu804del
ENST00000560628.1:n.108+1866_108+1880del
NM_000527.4:c.2397_2411del , LRG_274t1:c.2397_2411del NP_000518.1:p.Val800_Leu804del
NM_001195798.1:c.2397_2411del NP_001182727.1:p.Val800_Leu804del
NM_001195799.1:c.2274_2288del NP_001182728.1:p.Val759_Leu763del
NM_001195800.1:c.1893_1907del NP_001182729.1:p.Val632_Leu636del
NM_001195803.1:c.1863_1877del NP_001182732.1:p.Val622_Leu626del
XM_011528010.1:c.2319_2333del XP_011526312.1:p.Val774_Leu778del
XM_011528011.1:c.2016_2030del XP_011526313.1:p.Val673_Leu677del
XR_244074.2:n.2407_2421del
XM_011528010.2:c.2319_2333del XP_011526312.1:p.Val774_Leu778del
XR_001753685.2:n.2731_2745del
XR_001753686.2:n.2374_2388del
NM_000527.5:c.2397_2411del MANE Select NP_000518.1:p.Val800_Leu804del
NM_001195798.2:c.2397_2411del NP_001182727.1:p.Val800_Leu804del
NM_001195799.2:c.2274_2288del NP_001182728.1:p.Val759_Leu763del
NM_001195800.2:c.1893_1907del NP_001182729.1:p.Val632_Leu636del
NM_001195803.2:c.1863_1877del NP_001182732.1:p.Val622_Leu626del