Canonical Allele Identifier: CA2695228328
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129517_11129529del , CM000681.2:g.11129517_11129529del GRCh38
NC_000019.9:g.11240193_11240205del , CM000681.1:g.11240193_11240205del GRCh37
NC_000019.8:g.11101193_11101205del NCBI36
NG_009060.1:g.45137_45149del , LRG_274:g.45137_45149del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2652_2664del ENSP00000252444.6:p.Leu885AlafsTer?
ENST00000559340.2:c.*463_*475del ENSP00000453696.2:n.*463_*475del
ENST00000560467.2:c.2274_2286del ENSP00000453513.2:p.Leu759AlafsTer?
ENST00000558518.6:c.2394_2406del MANE Select ENSP00000454071.1:p.Leu799AlafsTer?
ENST00000252444.9:c.2648_2660del
ENST00000455727.6:c.1890_1902del ENSP00000397829.2:p.Leu631AlafsTer?
ENST00000535915.5:c.2271_2283del ENSP00000440520.1:p.Leu758AlafsTer?
ENST00000545707.5:c.1860_1872del ENSP00000437639.1:p.Leu621AlafsTer?
ENST00000557933.5:c.2456_2468del ENSP00000453557.1:p.Ser819LeufsTer14
ENST00000558013.5:c.2394_2406del ENSP00000453346.1:p.Leu799AlafsTer?
ENST00000558518.5:c.2394_2406del ENSP00000454071.1:p.Leu799AlafsTer?
ENST00000560628.1:n.108+1863_108+1875del
NM_000527.4:c.2394_2406del , LRG_274t1:c.2394_2406del NP_000518.1:p.Leu799AlafsTer?
NM_001195798.1:c.2394_2406del NP_001182727.1:p.Leu799AlafsTer?
NM_001195799.1:c.2271_2283del NP_001182728.1:p.Leu758AlafsTer?
NM_001195800.1:c.1890_1902del NP_001182729.1:p.Leu631AlafsTer?
NM_001195803.1:c.1860_1872del NP_001182732.1:p.Leu621AlafsTer?
XM_011528010.1:c.2316_2328del XP_011526312.1:p.Leu773AlafsTer?
XM_011528011.1:c.2013_2025del XP_011526313.1:p.Leu672AlafsTer?
XR_244074.2:n.2404_2416del
XM_011528010.2:c.2316_2328del XP_011526312.1:p.Leu773AlafsTer?
XR_001753685.2:n.2728_2740del
XR_001753686.2:n.2371_2383del
NM_000527.5:c.2394_2406del MANE Select NP_000518.1:p.Leu799AlafsTer?
NM_001195798.2:c.2394_2406del NP_001182727.1:p.Leu799AlafsTer?
NM_001195799.2:c.2271_2283del NP_001182728.1:p.Leu758AlafsTer?
NM_001195800.2:c.1890_1902del NP_001182729.1:p.Leu631AlafsTer?
NM_001195803.2:c.1860_1872del NP_001182732.1:p.Leu621AlafsTer?