Canonical Allele Identifier: CA916081223
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 844243
ClinVar RCV Id: RCV001047047
dbSNP Id: rs2077419273

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113666del , CM000681.2:g.11113666del GRCh38
NC_000019.9:g.11224342del , CM000681.1:g.11224342del GRCh37
NC_000019.8:g.11085342del NCBI36
NG_009060.1:g.29286del , LRG_274:g.29286del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1748del ENSP00000252444.6:p.Thr583MetfsTer10
ENST00000559340.2:c.1490del ENSP00000453696.2:p.Thr497MetfsTer10
ENST00000560467.2:c.1370del ENSP00000453513.2:p.Thr457MetfsTer10
ENST00000558518.6:c.1490del MANE Select ENSP00000454071.1:p.Thr497MetfsTer10
ENST00000252444.9:c.1744del
ENST00000455727.6:c.986del ENSP00000397829.2:p.Thr329MetfsTer10
ENST00000535915.5:c.1367del ENSP00000440520.1:p.Thr456MetfsTer10
ENST00000545707.5:c.1109del ENSP00000437639.1:p.Thr370MetfsTer10
ENST00000557933.5:c.1490del ENSP00000453557.1:p.Thr497MetfsTer10
ENST00000558013.5:c.1490del ENSP00000453346.1:p.Thr497MetfsTer10
ENST00000558518.5:c.1490del ENSP00000454071.1:p.Thr497MetfsTer10
ENST00000559340.1:c.211del
NM_000527.4:c.1490del , LRG_274t1:c.1490del NP_000518.1:p.Thr497MetfsTer10
NM_001195798.1:c.1490del NP_001182727.1:p.Thr497MetfsTer10
NM_001195799.1:c.1367del NP_001182728.1:p.Thr456MetfsTer10
NM_001195800.1:c.986del NP_001182729.1:p.Thr329MetfsTer10
NM_001195803.1:c.1109del NP_001182732.1:p.Thr370MetfsTer10
XM_011528010.1:c.1490del XP_011526312.1:p.Thr497MetfsTer10
XM_011528011.1:c.1109del XP_011526313.1:p.Thr370MetfsTer10
XR_244074.2:n.1640del
XM_011528010.2:c.1490del XP_011526312.1:p.Thr497MetfsTer10
XR_001753685.2:n.1607del
XR_001753686.2:n.1607del
NM_000527.5:c.1490del MANE Select NP_000518.1:p.Thr497MetfsTer10
NM_001195798.2:c.1490del NP_001182727.1:p.Thr497MetfsTer10
NM_001195799.2:c.1367del NP_001182728.1:p.Thr456MetfsTer10
NM_001195800.2:c.986del NP_001182729.1:p.Thr329MetfsTer10
NM_001195803.2:c.1109del NP_001182732.1:p.Thr370MetfsTer10