Canonical Allele Identifier: CA645372643
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431550
ClinVar RCV Id: RCV000497139
dbSNP Id: rs1135402785

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128072del , CM000681.2:g.11128072del GRCh38
NC_000019.9:g.11238748del , CM000681.1:g.11238748del GRCh37
NC_000019.8:g.11099748del NCBI36
NG_009060.1:g.43692del , LRG_274:g.43692del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2634del ENSP00000252444.6:p.Ile878MetfsTer?
ENST00000559340.2:c.*445del ENSP00000453696.2:n.*445del
ENST00000560467.2:c.2256del ENSP00000453513.2:p.Ile752MetfsTer?
ENST00000558518.6:c.2376del MANE Select ENSP00000454071.1:p.Ile792MetfsTer?
ENST00000252444.9:c.2630del
ENST00000455727.6:c.1872del ENSP00000397829.2:p.Ile624MetfsTer?
ENST00000535915.5:c.2253del ENSP00000440520.1:p.Ile751MetfsTer?
ENST00000545707.5:c.1842del ENSP00000437639.1:p.Ile614MetfsTer?
ENST00000557933.5:c.2376del ENSP00000453557.1:p.Ile792MetfsTer?
ENST00000558013.5:c.2376del ENSP00000453346.1:p.Ile792MetfsTer?
ENST00000558518.5:c.2376del ENSP00000454071.1:p.Ile792MetfsTer?
ENST00000560628.1:n.108+418del
NM_000527.4:c.2376del , LRG_274t1:c.2376del NP_000518.1:p.Ile792MetfsTer?
NM_001195798.1:c.2376del NP_001182727.1:p.Ile792MetfsTer?
NM_001195799.1:c.2253del NP_001182728.1:p.Ile751MetfsTer?
NM_001195800.1:c.1872del NP_001182729.1:p.Ile624MetfsTer?
NM_001195803.1:c.1842del NP_001182732.1:p.Ile614MetfsTer?
XM_011528010.1:c.2312-1441del XP_011526312.1:n.2312-1441del
XM_011528011.1:c.1995del XP_011526313.1:p.Ile665MetfsTer?
XR_244074.2:n.2386del
XM_011528010.2:c.2312-1441del XP_011526312.1:n.2312-1441del
XR_001753685.2:n.2710del
XR_001753686.2:n.2353del
NM_000527.5:c.2376del MANE Select NP_000518.1:p.Ile792MetfsTer?
NM_001195798.2:c.2376del NP_001182727.1:p.Ile792MetfsTer?
NM_001195799.2:c.2253del NP_001182728.1:p.Ile751MetfsTer?
NM_001195800.2:c.1872del NP_001182729.1:p.Ile624MetfsTer?
NM_001195803.2:c.1842del NP_001182732.1:p.Ile614MetfsTer?