Canonical Allele Identifier: CA2580096435
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1738257
ClinVar RCV Id: RCV002333236

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105321_11105322del , CM000681.2:g.11105321_11105322del GRCh38
NC_000019.9:g.11215997_11215998del , CM000681.1:g.11215997_11215998del GRCh37
NC_000019.8:g.11076997_11076998del NCBI36
NG_009060.1:g.20941_20942del , LRG_274:g.20941_20942del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.673_674del ENSP00000252444.6:p.Asp225ArgfsTer?
ENST00000559340.2:c.415_416del ENSP00000453696.2:p.Asp139ArgfsTer?
ENST00000560467.2:c.415_416del ENSP00000453513.2:p.Asp139ArgfsTer?
ENST00000558518.6:c.415_416del MANE Select ENSP00000454071.1:p.Asp139ArgfsTer?
ENST00000252444.9:c.669_670del
ENST00000455727.6:c.314-2071_314-2070del ENSP00000397829.2:n.314-2071_314-2070del
ENST00000535915.5:c.292_293del ENSP00000440520.1:p.Asp98ArgfsTer?
ENST00000545707.5:c.314-1244_314-1243del ENSP00000437639.1:n.314-1244_314-1243del
ENST00000557933.5:c.415_416del ENSP00000453557.1:p.Asp139ArgfsTer?
ENST00000558013.5:c.415_416del ENSP00000453346.1:p.Asp139ArgfsTer?
ENST00000558518.5:c.415_416del ENSP00000454071.1:p.Asp139ArgfsTer?
ENST00000560467.1:c.15_16del
NM_000527.4:c.415_416del , LRG_274t1:c.415_416del NP_000518.1:p.Asp139ArgfsTer?
NM_001195798.1:c.415_416del NP_001182727.1:p.Asp139ArgfsTer?
NM_001195799.1:c.292_293del NP_001182728.1:p.Asp98ArgfsTer?
NM_001195800.1:c.314-2071_314-2070del NP_001182729.1:n.314-2071_314-2070del
NM_001195803.1:c.314-1244_314-1243del NP_001182732.1:n.314-1244_314-1243del
XM_011528010.1:c.415_416del XP_011526312.1:p.Asp139ArgfsTer?
XM_011528011.1:c.314-1244_314-1243del XP_011526313.1:n.314-1244_314-1243del
XR_244074.2:n.565_566del
XM_011528010.2:c.415_416del XP_011526312.1:p.Asp139ArgfsTer?
XR_001753685.2:n.532_533del
XR_001753686.2:n.532_533del
NM_000527.5:c.415_416del MANE Select NP_000518.1:p.Asp139ArgfsTer?
NM_001195798.2:c.415_416del NP_001182727.1:p.Asp139ArgfsTer?
NM_001195799.2:c.292_293del NP_001182728.1:p.Asp98ArgfsTer?
NM_001195800.2:c.314-2071_314-2070del NP_001182729.1:n.314-2071_314-2070del
NM_001195803.2:c.314-1244_314-1243del NP_001182732.1:n.314-1244_314-1243del