Canonical Allele Identifier: CA2499225335
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1075455
ClinVar RCV Id: RCV001389056
dbSNP Id: rs2147287353

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129653_11129665del , CM000681.2:g.11129653_11129665del GRCh38
NC_000019.9:g.11240329_11240341del , CM000681.1:g.11240329_11240341del GRCh37
NC_000019.8:g.11101329_11101341del NCBI36
NG_009060.1:g.45273_45285del , LRG_274:g.45273_45285del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2788_2800del ENSP00000252444.6:p.Gly930ProfsTer?
ENST00000559340.2:c.*599_*611del ENSP00000453696.2:n.*599_*611del
ENST00000560467.2:c.2410_2422del ENSP00000453513.2:p.Gly804ProfsTer?
ENST00000558518.6:c.2530_2542del MANE Select ENSP00000454071.1:p.Gly844ProfsTer?
ENST00000252444.9:c.2784_2796del
ENST00000455727.6:c.2026_2038del ENSP00000397829.2:p.Gly676ProfsTer?
ENST00000535915.5:c.2407_2419del ENSP00000440520.1:p.Gly803ProfsTer?
ENST00000545707.5:c.1996_2008del ENSP00000437639.1:p.Gly666ProfsTer?
ENST00000557933.5:c.2592_2604del ENSP00000453557.1:p.Ala865LeufsTer10
ENST00000558013.5:c.2530_2542del ENSP00000453346.1:p.Gly844ProfsTer?
ENST00000558518.5:c.2530_2542del ENSP00000454071.1:p.Gly844ProfsTer?
ENST00000560628.1:n.108+1999_108+2011del
NM_000527.4:c.2530_2542del , LRG_274t1:c.2530_2542del NP_000518.1:p.Gly844ProfsTer?
NM_001195798.1:c.2530_2542del NP_001182727.1:p.Gly844ProfsTer?
NM_001195799.1:c.2407_2419del NP_001182728.1:p.Gly803ProfsTer?
NM_001195800.1:c.2026_2038del NP_001182729.1:p.Gly676ProfsTer?
NM_001195803.1:c.1996_2008del NP_001182732.1:p.Gly666ProfsTer?
XM_011528010.1:c.2452_2464del XP_011526312.1:p.Gly818ProfsTer?
XM_011528011.1:c.2149_2161del XP_011526313.1:p.Gly717ProfsTer?
XM_011528010.2:c.2452_2464del XP_011526312.1:p.Gly818ProfsTer?
XR_001753685.2:n.2864_2876del
XR_001753686.2:n.2507_2519del
NM_000527.5:c.2530_2542del MANE Select NP_000518.1:p.Gly844ProfsTer?
NM_001195798.2:c.2530_2542del NP_001182727.1:p.Gly844ProfsTer?
NM_001195799.2:c.2407_2419del NP_001182728.1:p.Gly803ProfsTer?
NM_001195800.2:c.2026_2038del NP_001182729.1:p.Gly676ProfsTer?
NM_001195803.2:c.1996_2008del NP_001182732.1:p.Gly666ProfsTer?