Canonical Allele Identifier: CA2573050619
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120464_11120481del , CM000681.2:g.11120464_11120481del GRCh38
NC_000019.9:g.11231140_11231157del , CM000681.1:g.11231140_11231157del GRCh37
NC_000019.8:g.11092140_11092157del NCBI36
NG_009060.1:g.36084_36101del , LRG_274:g.36084_36101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2340_2357del ENSP00000252444.6:p.Thr781_Asp786del
ENST00000559340.2:c.*151_*168del ENSP00000453696.2:n.*151_*168del
ENST00000560467.2:c.1962_1979del ENSP00000453513.2:p.Thr655_Asp660del
ENST00000558518.6:c.2082_2099del MANE Select ENSP00000454071.1:p.Thr695_Asp700del
ENST00000252444.9:c.2336_2353del
ENST00000455727.6:c.1578_1595del ENSP00000397829.2:p.Thr527_Asp532del
ENST00000535915.5:c.1959_1976del ENSP00000440520.1:p.Thr654_Asp659del
ENST00000545707.5:c.1606+231_1606+248del ENSP00000437639.1:n.1606+231_1606+248del
ENST00000557933.5:c.2082_2099del ENSP00000453557.1:p.Thr695_Asp700del
ENST00000558013.5:c.2082_2099del ENSP00000453346.1:p.Thr695_Asp700del
ENST00000558518.5:c.2082_2099del ENSP00000454071.1:p.Thr695_Asp700del
NM_000527.4:c.2082_2099del , LRG_274t1:c.2082_2099del NP_000518.1:p.Thr695_Asp700del
NM_001195798.1:c.2082_2099del NP_001182727.1:p.Thr695_Asp700del
NM_001195799.1:c.1959_1976del NP_001182728.1:p.Thr654_Asp659del
NM_001195800.1:c.1578_1595del NP_001182729.1:p.Thr527_Asp532del
NM_001195803.1:c.1606+231_1606+248del NP_001182732.1:n.1606+231_1606+248del
XM_011528010.1:c.2082_2099del XP_011526312.1:p.Thr695_Asp700del
XM_011528011.1:c.1701_1718del XP_011526313.1:p.Thr568_Asp573del
XR_244074.2:n.2092_2109del
XM_011528010.2:c.2082_2099del XP_011526312.1:p.Thr695_Asp700del
XR_001753685.2:n.2199_2216del
XR_001753686.2:n.2059_2076del
NM_000527.5:c.2082_2099del MANE Select NP_000518.1:p.Thr695_Asp700del
NM_001195798.2:c.2082_2099del NP_001182727.1:p.Thr695_Asp700del
NM_001195799.2:c.1959_1976del NP_001182728.1:p.Thr654_Asp659del
NM_001195800.2:c.1578_1595del NP_001182729.1:p.Thr527_Asp532del
NM_001195803.2:c.1606+231_1606+248del NP_001182732.1:n.1606+231_1606+248del