Canonical Allele Identifier: CA16616200
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 406170
ClinVar RCV Id: RCV000471150
dbSNP Id: rs1060500988

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120383del , CM000681.2:g.11120383del GRCh38
NC_000019.9:g.11231059del , CM000681.1:g.11231059del GRCh37
NC_000019.8:g.11092059del NCBI36
NG_009060.1:g.36003del , LRG_274:g.36003del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2259del ENSP00000252444.6:p.Cys753TrpfsTer6
ENST00000559340.2:c.*70del ENSP00000453696.2:n.*70del
ENST00000560467.2:c.1881del ENSP00000453513.2:p.Cys627TrpfsTer6
ENST00000558518.6:c.2001del MANE Select ENSP00000454071.1:p.Cys667TrpfsTer6
ENST00000252444.9:c.2255del
ENST00000455727.6:c.1497del ENSP00000397829.2:p.Cys499TrpfsTer6
ENST00000535915.5:c.1878del ENSP00000440520.1:p.Cys626TrpfsTer6
ENST00000545707.5:c.1606+150del ENSP00000437639.1:n.1606+150del
ENST00000557933.5:c.2001del ENSP00000453557.1:p.Cys667TrpfsTer6
ENST00000558013.5:c.2001del ENSP00000453346.1:p.Cys667TrpfsTer6
ENST00000558518.5:c.2001del ENSP00000454071.1:p.Cys667TrpfsTer6
ENST00000559340.1:c.582del
NM_000527.4:c.2001del , LRG_274t1:c.2001del NP_000518.1:p.Cys667TrpfsTer6
NM_001195798.1:c.2001del NP_001182727.1:p.Cys667TrpfsTer6
NM_001195799.1:c.1878del NP_001182728.1:p.Cys626TrpfsTer6
NM_001195800.1:c.1497del NP_001182729.1:p.Cys499TrpfsTer6
NM_001195803.1:c.1606+150del NP_001182732.1:n.1606+150del
XM_011528010.1:c.2001del XP_011526312.1:p.Cys667TrpfsTer6
XM_011528011.1:c.1620del XP_011526313.1:p.Cys540TrpfsTer6
XR_244074.2:n.2011del
XM_011528010.2:c.2001del XP_011526312.1:p.Cys667TrpfsTer6
XR_001753685.2:n.2118del
XR_001753686.2:n.1978del
NM_000527.5:c.2001del MANE Select NP_000518.1:p.Cys667TrpfsTer6
NM_001195798.2:c.2001del NP_001182727.1:p.Cys667TrpfsTer6
NM_001195799.2:c.1878del NP_001182728.1:p.Cys626TrpfsTer6
NM_001195800.2:c.1497del NP_001182729.1:p.Cys499TrpfsTer6
NM_001195803.2:c.1606+150del NP_001182732.1:n.1606+150del