Canonical Allele Identifier: CA16602331
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375817
ClinVar RCV Id: RCV000417249
dbSNP Id: rs1057519673

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113705del , CM000681.2:g.11113705del GRCh38
NC_000019.9:g.11224381del , CM000681.1:g.11224381del GRCh37
NC_000019.8:g.11085381del NCBI36
NG_009060.1:g.29325del , LRG_274:g.29325del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1787del ENSP00000252444.6:p.Thr596SerfsTer?
ENST00000559340.2:c.1529del ENSP00000453696.2:p.Thr510SerfsTer?
ENST00000560467.2:c.1409del ENSP00000453513.2:p.Thr470SerfsTer?
ENST00000558518.6:c.1529del MANE Select ENSP00000454071.1:p.Thr510SerfsTer?
ENST00000252444.9:c.1783del
ENST00000455727.6:c.1025del ENSP00000397829.2:p.Thr342SerfsTer?
ENST00000535915.5:c.1406del ENSP00000440520.1:p.Thr469SerfsTer?
ENST00000545707.5:c.1148del ENSP00000437639.1:p.Thr383SerfsTer?
ENST00000557933.5:c.1529del ENSP00000453557.1:p.Thr510SerfsTer?
ENST00000558013.5:c.1529del ENSP00000453346.1:p.Thr510SerfsTer?
ENST00000558518.5:c.1529del ENSP00000454071.1:p.Thr510SerfsTer?
ENST00000559340.1:c.250del
NM_000527.4:c.1529del , LRG_274t1:c.1529del NP_000518.1:p.Thr510SerfsTer?
NM_001195798.1:c.1529del NP_001182727.1:p.Thr510SerfsTer?
NM_001195799.1:c.1406del NP_001182728.1:p.Thr469SerfsTer?
NM_001195800.1:c.1025del NP_001182729.1:p.Thr342SerfsTer?
NM_001195803.1:c.1148del NP_001182732.1:p.Thr383SerfsTer?
XM_011528010.1:c.1529del XP_011526312.1:p.Thr510SerfsTer?
XM_011528011.1:c.1148del XP_011526313.1:p.Thr383SerfsTer?
XR_244074.2:n.1679del
XM_011528010.2:c.1529del XP_011526312.1:p.Thr510SerfsTer?
XR_001753685.2:n.1646del
XR_001753686.2:n.1646del
NM_000527.5:c.1529del MANE Select NP_000518.1:p.Thr510SerfsTer?
NM_001195798.2:c.1529del NP_001182727.1:p.Thr510SerfsTer?
NM_001195799.2:c.1406del NP_001182728.1:p.Thr469SerfsTer?
NM_001195800.2:c.1025del NP_001182729.1:p.Thr342SerfsTer?
NM_001195803.2:c.1148del NP_001182732.1:p.Thr383SerfsTer?