Canonical Allele Identifier: CA10585388
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251769
ClinVar RCV Id: RCV000237763
dbSNP Id: rs879254854

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113382_11113422del , CM000681.2:g.11113382_11113422del GRCh38
NC_000019.9:g.11224058_11224098del , CM000681.1:g.11224058_11224098del GRCh37
NC_000019.8:g.11085058_11085098del NCBI36
NG_009060.1:g.29002_29042del , LRG_274:g.29002_29042del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1549_1589del ENSP00000252444.6:p.Ala517Ter
ENST00000559340.2:c.1291_1331del ENSP00000453696.2:p.Ala431Ter
ENST00000560467.2:c.1171_1211del ENSP00000453513.2:p.Ala391Ter
ENST00000558518.6:c.1291_1331del MANE Select ENSP00000454071.1:p.Ala431Ter
ENST00000252444.9:c.1545_1585del
ENST00000455727.6:c.787_827del ENSP00000397829.2:p.Ala263Ter
ENST00000535915.5:c.1168_1208del ENSP00000440520.1:p.Ala390Ter
ENST00000545707.5:c.910_950del ENSP00000437639.1:p.Ala304Ter
ENST00000557933.5:c.1291_1331del ENSP00000453557.1:p.Ala431Ter
ENST00000558013.5:c.1291_1331del ENSP00000453346.1:p.Ala431Ter
ENST00000558518.5:c.1291_1331del ENSP00000454071.1:p.Ala431Ter
ENST00000559340.1:c.12_52del
ENST00000560173.1:n.290_330del
ENST00000560467.1:c.771_811del
NM_000527.4:c.1291_1331del , LRG_274t1:c.1291_1331del NP_000518.1:p.Ala431Ter
NM_001195798.1:c.1291_1331del NP_001182727.1:p.Ala431Ter
NM_001195799.1:c.1168_1208del NP_001182728.1:p.Ala390Ter
NM_001195800.1:c.787_827del NP_001182729.1:p.Ala263Ter
NM_001195803.1:c.910_950del NP_001182732.1:p.Ala304Ter
XM_011528010.1:c.1291_1331del XP_011526312.1:p.Ala431Ter
XM_011528011.1:c.910_950del XP_011526313.1:p.Ala304Ter
XR_244074.2:n.1441_1481del
XM_011528010.2:c.1291_1331del XP_011526312.1:p.Ala431Ter
XR_001753685.2:n.1408_1448del
XR_001753686.2:n.1408_1448del
NM_000527.5:c.1291_1331del MANE Select NP_000518.1:p.Ala431Ter
NM_001195798.2:c.1291_1331del NP_001182727.1:p.Ala431Ter
NM_001195799.2:c.1168_1208del NP_001182728.1:p.Ala390Ter
NM_001195800.2:c.787_827del NP_001182729.1:p.Ala263Ter
NM_001195803.2:c.910_950del NP_001182732.1:p.Ala304Ter