Canonical Allele Identifier: CA2695228318
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123317del , CM000681.2:g.11123317del GRCh38
NC_000019.9:g.11233993del , CM000681.1:g.11233993del GRCh37
NC_000019.8:g.11094993del NCBI36
NG_009060.1:g.38937del , LRG_274:g.38937del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2542del ENSP00000252444.6:p.Val848TrpfsTer3
ENST00000559340.2:c.*353del ENSP00000453696.2:n.*353del
ENST00000560467.2:c.2164del ENSP00000453513.2:p.Val722TrpfsTer3
ENST00000558518.6:c.2284del MANE Select ENSP00000454071.1:p.Val762TrpfsTer3
ENST00000252444.9:c.2538del
ENST00000455727.6:c.1780del ENSP00000397829.2:p.Val594TrpfsTer3
ENST00000535915.5:c.2161del ENSP00000440520.1:p.Val721TrpfsTer3
ENST00000545707.5:c.1750del ENSP00000437639.1:p.Val584TrpfsTer3
ENST00000557933.5:c.2284del ENSP00000453557.1:p.Val762TrpfsTer3
ENST00000558013.5:c.2284del ENSP00000453346.1:p.Val762TrpfsTer3
ENST00000558518.5:c.2284del ENSP00000454071.1:p.Val762TrpfsTer3
NM_000527.4:c.2284del , LRG_274t1:c.2284del NP_000518.1:p.Val762TrpfsTer3
NM_001195798.1:c.2284del NP_001182727.1:p.Val762TrpfsTer3
NM_001195799.1:c.2161del NP_001182728.1:p.Val721TrpfsTer3
NM_001195800.1:c.1780del NP_001182729.1:p.Val594TrpfsTer3
NM_001195803.1:c.1750del NP_001182732.1:p.Val584TrpfsTer3
XM_011528010.1:c.2284del XP_011526312.1:p.Val762TrpfsTer3
XM_011528011.1:c.1903del XP_011526313.1:p.Val635TrpfsTer3
XR_244074.2:n.2294del
XM_011528010.2:c.2284del XP_011526312.1:p.Val762TrpfsTer3
XR_001753685.2:n.2618del
XR_001753686.2:n.2261del
NM_000527.5:c.2284del MANE Select NP_000518.1:p.Val762TrpfsTer3
NM_001195798.2:c.2284del NP_001182727.1:p.Val762TrpfsTer3
NM_001195799.2:c.2161del NP_001182728.1:p.Val721TrpfsTer3
NM_001195800.2:c.1780del NP_001182729.1:p.Val594TrpfsTer3
NM_001195803.2:c.1750del NP_001182732.1:p.Val584TrpfsTer3