Canonical Allele Identifier: CA645373233
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430779
ClinVar RCV Id: RCV000495873
dbSNP Id: rs1131692210

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113706del , CM000681.2:g.11113706del GRCh38
NC_000019.9:g.11224382del , CM000681.1:g.11224382del GRCh37
NC_000019.8:g.11085382del NCBI36
NG_009060.1:g.29326del , LRG_274:g.29326del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1788del ENSP00000252444.6:p.Leu597TyrfsTer?
ENST00000559340.2:c.1530del ENSP00000453696.2:p.Leu511TyrfsTer?
ENST00000560467.2:c.1410del ENSP00000453513.2:p.Leu471TyrfsTer?
ENST00000558518.6:c.1530del MANE Select ENSP00000454071.1:p.Leu511TyrfsTer?
ENST00000252444.9:c.1784del
ENST00000455727.6:c.1026del ENSP00000397829.2:p.Leu343TyrfsTer?
ENST00000535915.5:c.1407del ENSP00000440520.1:p.Leu470TyrfsTer?
ENST00000545707.5:c.1149del ENSP00000437639.1:p.Leu384TyrfsTer?
ENST00000557933.5:c.1530del ENSP00000453557.1:p.Leu511TyrfsTer?
ENST00000558013.5:c.1530del ENSP00000453346.1:p.Leu511TyrfsTer?
ENST00000558518.5:c.1530del ENSP00000454071.1:p.Leu511TyrfsTer?
ENST00000559340.1:c.251del
NM_000527.4:c.1530del , LRG_274t1:c.1530del NP_000518.1:p.Leu511TyrfsTer?
NM_001195798.1:c.1530del NP_001182727.1:p.Leu511TyrfsTer?
NM_001195799.1:c.1407del NP_001182728.1:p.Leu470TyrfsTer?
NM_001195800.1:c.1026del NP_001182729.1:p.Leu343TyrfsTer?
NM_001195803.1:c.1149del NP_001182732.1:p.Leu384TyrfsTer?
XM_011528010.1:c.1530del XP_011526312.1:p.Leu511TyrfsTer?
XM_011528011.1:c.1149del XP_011526313.1:p.Leu384TyrfsTer?
XR_244074.2:n.1680del
XM_011528010.2:c.1530del XP_011526312.1:p.Leu511TyrfsTer?
XR_001753685.2:n.1647del
XR_001753686.2:n.1647del
NM_000527.5:c.1530del MANE Select NP_000518.1:p.Leu511TyrfsTer?
NM_001195798.2:c.1530del NP_001182727.1:p.Leu511TyrfsTer?
NM_001195799.2:c.1407del NP_001182728.1:p.Leu470TyrfsTer?
NM_001195800.2:c.1026del NP_001182729.1:p.Leu343TyrfsTer?
NM_001195803.2:c.1149del NP_001182732.1:p.Leu384TyrfsTer?