Canonical Allele Identifier: CA10585859
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252329
dbSNP Id: rs773618064

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129539del , CM000681.2:g.11129539del GRCh38
NC_000019.9:g.11240215del , CM000681.1:g.11240215del GRCh37
NC_000019.8:g.11101215del NCBI36
NG_009060.1:g.45159del , LRG_274:g.45159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2674del ENSP00000252444.6:p.Val892SerfsTer?
ENST00000559340.2:c.*485del ENSP00000453696.2:n.*485del
ENST00000560467.2:c.2296del ENSP00000453513.2:p.Val766SerfsTer?
ENST00000558518.6:c.2416del MANE Select ENSP00000454071.1:p.Val806SerfsTer?
ENST00000252444.9:c.2670del
ENST00000455727.6:c.1912del ENSP00000397829.2:p.Val638SerfsTer?
ENST00000535915.5:c.2293del ENSP00000440520.1:p.Val765SerfsTer?
ENST00000545707.5:c.1882del ENSP00000437639.1:p.Val628SerfsTer?
ENST00000557933.5:c.2478del ENSP00000453557.1:p.Ser827LeufsTer10
ENST00000558013.5:c.2416del ENSP00000453346.1:p.Val806SerfsTer?
ENST00000558518.5:c.2416del ENSP00000454071.1:p.Val806SerfsTer?
ENST00000560628.1:n.108+1885del
NM_000527.4:c.2416del , LRG_274t1:c.2416del NP_000518.1:p.Val806SerfsTer?
NM_001195798.1:c.2416del NP_001182727.1:p.Val806SerfsTer?
NM_001195799.1:c.2293del NP_001182728.1:p.Val765SerfsTer?
NM_001195800.1:c.1912del NP_001182729.1:p.Val638SerfsTer?
NM_001195803.1:c.1882del NP_001182732.1:p.Val628SerfsTer?
XM_011528010.1:c.2338del XP_011526312.1:p.Val780SerfsTer?
XM_011528011.1:c.2035del XP_011526313.1:p.Val679SerfsTer?
XR_244074.2:n.2426del
XM_011528010.2:c.2338del XP_011526312.1:p.Val780SerfsTer?
XR_001753685.2:n.2750del
XR_001753686.2:n.2393del
NM_000527.5:c.2416del MANE Select NP_000518.1:p.Val806SerfsTer?
NM_001195798.2:c.2416del NP_001182727.1:p.Val806SerfsTer?
NM_001195799.2:c.2293del NP_001182728.1:p.Val765SerfsTer?
NM_001195800.2:c.1912del NP_001182729.1:p.Val638SerfsTer?
NM_001195803.2:c.1882del NP_001182732.1:p.Val628SerfsTer?