Canonical Allele Identifier: CA2499225332
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1171040
ClinVar RCV Id: RCV001523923
dbSNP Id: rs2147287002

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129565del , CM000681.2:g.11129565del GRCh38
NC_000019.9:g.11240241del , CM000681.1:g.11240241del GRCh37
NC_000019.8:g.11101241del NCBI36
NG_009060.1:g.45185del , LRG_274:g.45185del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2700del ENSP00000252444.6:p.Lys902ArgfsTer?
ENST00000559340.2:c.*511del ENSP00000453696.2:n.*511del
ENST00000560467.2:c.2322del ENSP00000453513.2:p.Lys776ArgfsTer?
ENST00000558518.6:c.2442del MANE Select ENSP00000454071.1:p.Lys816ArgfsTer?
ENST00000252444.9:c.2696del
ENST00000455727.6:c.1938del ENSP00000397829.2:p.Lys648ArgfsTer?
ENST00000535915.5:c.2319del ENSP00000440520.1:p.Lys775ArgfsTer?
ENST00000545707.5:c.1908del ENSP00000437639.1:p.Lys638ArgfsTer?
ENST00000557933.5:c.2504del ENSP00000453557.1:p.Gly835AlafsTer2
ENST00000558013.5:c.2442del ENSP00000453346.1:p.Lys816ArgfsTer?
ENST00000558518.5:c.2442del ENSP00000454071.1:p.Lys816ArgfsTer?
ENST00000560628.1:n.108+1911del
NM_000527.4:c.2442del , LRG_274t1:c.2442del NP_000518.1:p.Lys816ArgfsTer?
NM_001195798.1:c.2442del NP_001182727.1:p.Lys816ArgfsTer?
NM_001195799.1:c.2319del NP_001182728.1:p.Lys775ArgfsTer?
NM_001195800.1:c.1938del NP_001182729.1:p.Lys648ArgfsTer?
NM_001195803.1:c.1908del NP_001182732.1:p.Lys638ArgfsTer?
XM_011528010.1:c.2364del XP_011526312.1:p.Lys790ArgfsTer?
XM_011528011.1:c.2061del XP_011526313.1:p.Lys689ArgfsTer?
XR_244074.2:n.2452del
XM_011528010.2:c.2364del XP_011526312.1:p.Lys790ArgfsTer?
XR_001753685.2:n.2776del
XR_001753686.2:n.2419del
NM_000527.5:c.2442del MANE Select NP_000518.1:p.Lys816ArgfsTer?
NM_001195798.2:c.2442del NP_001182727.1:p.Lys816ArgfsTer?
NM_001195799.2:c.2319del NP_001182728.1:p.Lys775ArgfsTer?
NM_001195800.2:c.1938del NP_001182729.1:p.Lys648ArgfsTer?
NM_001195803.2:c.1908del NP_001182732.1:p.Lys638ArgfsTer?