Canonical Allele Identifier: CA2497030140
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110654del , CM000681.2:g.11110654del GRCh38
NC_000019.9:g.11221330del , CM000681.1:g.11221330del GRCh37
NC_000019.8:g.11082330del NCBI36
NG_009060.1:g.26274del , LRG_274:g.26274del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1201del ENSP00000252444.6:p.Thr401ProfsTer?
ENST00000559340.2:c.943del ENSP00000453696.2:p.Thr315ProfsTer?
ENST00000560467.2:c.941-860del ENSP00000453513.2:n.941-860del
ENST00000558518.6:c.943del MANE Select ENSP00000454071.1:p.Thr315ProfsTer?
ENST00000252444.9:c.1197del
ENST00000455727.6:c.439del ENSP00000397829.2:p.Thr147ProfsTer?
ENST00000535915.5:c.820del ENSP00000440520.1:p.Thr274ProfsTer?
ENST00000545707.5:c.562del ENSP00000437639.1:p.Thr188ProfsTer?
ENST00000557933.5:c.943del ENSP00000453557.1:p.Thr315ProfsTer?
ENST00000558013.5:c.943del ENSP00000453346.1:p.Thr315ProfsTer?
ENST00000558518.5:c.943del ENSP00000454071.1:p.Thr315ProfsTer?
ENST00000560467.1:c.541-860del
NM_000527.4:c.943del , LRG_274t1:c.943del NP_000518.1:p.Thr315ProfsTer?
NM_001195798.1:c.943del NP_001182727.1:p.Thr315ProfsTer?
NM_001195799.1:c.820del NP_001182728.1:p.Thr274ProfsTer?
NM_001195800.1:c.439del NP_001182729.1:p.Thr147ProfsTer?
NM_001195803.1:c.562del NP_001182732.1:p.Thr188ProfsTer?
XM_011528010.1:c.943del XP_011526312.1:p.Thr315ProfsTer?
XM_011528011.1:c.562del XP_011526313.1:p.Thr188ProfsTer?
XR_244074.2:n.1093del
XM_011528010.2:c.943del XP_011526312.1:p.Thr315ProfsTer?
XR_001753685.2:n.1060del
XR_001753686.2:n.1060del
NM_000527.5:c.943del MANE Select NP_000518.1:p.Thr315ProfsTer?
NM_001195798.2:c.943del NP_001182727.1:p.Thr315ProfsTer?
NM_001195799.2:c.820del NP_001182728.1:p.Thr274ProfsTer?
NM_001195800.2:c.439del NP_001182729.1:p.Thr147ProfsTer?
NM_001195803.2:c.562del NP_001182732.1:p.Thr188ProfsTer?