Canonical Allele Identifier: CA658653855
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441230
ClinVar RCV Id: RCV000509225
dbSNP Id: rs1555808143

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123315_11123342del , CM000681.2:g.11123315_11123342del GRCh38
NC_000019.9:g.11233991_11234018del , CM000681.1:g.11233991_11234018del GRCh37
NC_000019.8:g.11094991_11095018del NCBI36
NG_009060.1:g.38935_38962del , LRG_274:g.38935_38962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2540_2567del ENSP00000252444.6:p.Thr847LysfsTer18
ENST00000559340.2:c.*351_*378del ENSP00000453696.2:n.*351_*378del
ENST00000560467.2:c.2162_2189del ENSP00000453513.2:p.Thr721LysfsTer18
ENST00000558518.6:c.2282_2309del MANE Select ENSP00000454071.1:p.Thr761LysfsTer18
ENST00000252444.9:c.2536_2563del
ENST00000455727.6:c.1778_1805del ENSP00000397829.2:p.Thr593LysfsTer18
ENST00000535915.5:c.2159_2186del ENSP00000440520.1:p.Thr720LysfsTer18
ENST00000545707.5:c.1748_1775del ENSP00000437639.1:p.Thr583LysfsTer18
ENST00000557933.5:c.2282_2309del ENSP00000453557.1:p.Thr761LysfsTer18
ENST00000558013.5:c.2282_2309del ENSP00000453346.1:p.Thr761LysfsTer18
ENST00000558518.5:c.2282_2309del ENSP00000454071.1:p.Thr761LysfsTer18
NM_000527.4:c.2282_2309del , LRG_274t1:c.2282_2309del NP_000518.1:p.Thr761LysfsTer18
NM_001195798.1:c.2282_2309del NP_001182727.1:p.Thr761LysfsTer18
NM_001195799.1:c.2159_2186del NP_001182728.1:p.Thr720LysfsTer18
NM_001195800.1:c.1778_1805del NP_001182729.1:p.Thr593LysfsTer18
NM_001195803.1:c.1748_1775del NP_001182732.1:p.Thr583LysfsTer18
XM_011528010.1:c.2282_2309del XP_011526312.1:p.Thr761LysfsTer?
XM_011528011.1:c.1901_1928del XP_011526313.1:p.Thr634LysfsTer18
XR_244074.2:n.2292_2319del
XM_011528010.2:c.2282_2309del XP_011526312.1:p.Thr761LysfsTer?
XR_001753685.2:n.2616_2643del
XR_001753686.2:n.2259_2286del
NM_000527.5:c.2282_2309del MANE Select NP_000518.1:p.Thr761LysfsTer18
NM_001195798.2:c.2282_2309del NP_001182727.1:p.Thr761LysfsTer18
NM_001195799.2:c.2159_2186del NP_001182728.1:p.Thr720LysfsTer18
NM_001195800.2:c.1778_1805del NP_001182729.1:p.Thr593LysfsTer18
NM_001195803.2:c.1748_1775del NP_001182732.1:p.Thr583LysfsTer18