Canonical Allele Identifier: CA2582476514
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129582_11129587del , CM000681.2:g.11129582_11129587del GRCh38
NC_000019.9:g.11240258_11240263del , CM000681.1:g.11240258_11240263del GRCh37
NC_000019.8:g.11101258_11101263del NCBI36
NG_009060.1:g.45202_45207del , LRG_274:g.45202_45207del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2717_2722del ENSP00000252444.6:p.Ser906_Ile907del
ENST00000559340.2:c.*528_*533del ENSP00000453696.2:n.*528_*533del
ENST00000560467.2:c.2339_2344del ENSP00000453513.2:p.Ser780_Ile781del
ENST00000558518.6:c.2459_2464del MANE Select ENSP00000454071.1:p.Ser820_Ile821del
ENST00000252444.9:c.2713_2718del
ENST00000455727.6:c.1955_1960del ENSP00000397829.2:p.Ser652_Ile653del
ENST00000535915.5:c.2336_2341del ENSP00000440520.1:p.Ser779_Ile780del
ENST00000545707.5:c.1925_1930del ENSP00000437639.1:p.Ser642_Ile643del
ENST00000557933.5:c.2521_2526del ENSP00000453557.1:p.Ala841_Ser842del
ENST00000558013.5:c.2459_2464del ENSP00000453346.1:p.Ser820_Ile821del
ENST00000558518.5:c.2459_2464del ENSP00000454071.1:p.Ser820_Ile821del
ENST00000560628.1:n.108+1928_108+1933del
NM_000527.4:c.2459_2464del , LRG_274t1:c.2459_2464del NP_000518.1:p.Ser820_Ile821del
NM_001195798.1:c.2459_2464del NP_001182727.1:p.Ser820_Ile821del
NM_001195799.1:c.2336_2341del NP_001182728.1:p.Ser779_Ile780del
NM_001195800.1:c.1955_1960del NP_001182729.1:p.Ser652_Ile653del
NM_001195803.1:c.1925_1930del NP_001182732.1:p.Ser642_Ile643del
XM_011528010.1:c.2381_2386del XP_011526312.1:p.Ser794_Ile795del
XM_011528011.1:c.2078_2083del XP_011526313.1:p.Ser693_Ile694del
XM_011528010.2:c.2381_2386del XP_011526312.1:p.Ser794_Ile795del
XR_001753685.2:n.2793_2798del
XR_001753686.2:n.2436_2441del
NM_000527.5:c.2459_2464del MANE Select NP_000518.1:p.Ser820_Ile821del
NM_001195798.2:c.2459_2464del NP_001182727.1:p.Ser820_Ile821del
NM_001195799.2:c.2336_2341del NP_001182728.1:p.Ser779_Ile780del
NM_001195800.2:c.1955_1960del NP_001182729.1:p.Ser652_Ile653del
NM_001195803.2:c.1925_1930del NP_001182732.1:p.Ser642_Ile643del