Canonical Allele Identifier: CA10585605
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252024
ClinVar RCV Id: RCV000238569
dbSNP Id: rs879255016

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116919del , CM000681.2:g.11116919del GRCh38
NC_000019.9:g.11227595del , CM000681.1:g.11227595del GRCh37
NC_000019.8:g.11088595del NCBI36
NG_009060.1:g.32539del , LRG_274:g.32539del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2024del ENSP00000252444.6:p.Asp675ValfsTer?
ENST00000559340.2:c.1705+707del ENSP00000453696.2:n.1705+707del
ENST00000560467.2:c.1646del ENSP00000453513.2:p.Asp549ValfsTer?
ENST00000558518.6:c.1766del MANE Select ENSP00000454071.1:p.Asp589ValfsTer?
ENST00000252444.9:c.2020del
ENST00000455727.6:c.1262del ENSP00000397829.2:p.Asp421ValfsTer?
ENST00000535915.5:c.1643del ENSP00000440520.1:p.Asp548ValfsTer?
ENST00000545707.5:c.1385del ENSP00000437639.1:p.Asp462ValfsTer?
ENST00000557933.5:c.1766del ENSP00000453557.1:p.Asp589ValfsTer?
ENST00000558013.5:c.1766del ENSP00000453346.1:p.Asp589ValfsTer?
ENST00000558518.5:c.1766del ENSP00000454071.1:p.Asp589ValfsTer?
ENST00000559340.1:c.426+707del
NM_000527.4:c.1766del , LRG_274t1:c.1766del NP_000518.1:p.Asp589ValfsTer?
NM_001195798.1:c.1766del NP_001182727.1:p.Asp589ValfsTer?
NM_001195799.1:c.1643del NP_001182728.1:p.Asp548ValfsTer?
NM_001195800.1:c.1262del NP_001182729.1:p.Asp421ValfsTer?
NM_001195803.1:c.1385del NP_001182732.1:p.Asp462ValfsTer?
XM_011528010.1:c.1766del XP_011526312.1:p.Asp589ValfsTer?
XM_011528011.1:c.1385del XP_011526313.1:p.Asp462ValfsTer?
XR_244074.2:n.1855+707del
XM_011528010.2:c.1766del XP_011526312.1:p.Asp589ValfsTer?
XR_001753685.2:n.1883del
XR_001753686.2:n.1822+707del
NM_000527.5:c.1766del MANE Select NP_000518.1:p.Asp589ValfsTer?
NM_001195798.2:c.1766del NP_001182727.1:p.Asp589ValfsTer?
NM_001195799.2:c.1643del NP_001182728.1:p.Asp548ValfsTer?
NM_001195800.2:c.1262del NP_001182729.1:p.Asp421ValfsTer?
NM_001195803.2:c.1385del NP_001182732.1:p.Asp462ValfsTer?