Canonical Allele Identifier: CA645509261
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440582
ClinVar RCV Id: RCV000508803
dbSNP Id: rs1555803354

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105471del , CM000681.2:g.11105471del GRCh38
NC_000019.9:g.11216147del , CM000681.1:g.11216147del GRCh37
NC_000019.8:g.11077147del NCBI36
NG_009060.1:g.21091del , LRG_274:g.21091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.823del ENSP00000252444.6:p.Val275CysfsTer17
ENST00000559340.2:c.565del ENSP00000453696.2:p.Val189CysfsTer17
ENST00000560467.2:c.565del ENSP00000453513.2:p.Val189CysfsTer17
ENST00000558518.6:c.565del MANE Select ENSP00000454071.1:p.Val189CysfsTer17
ENST00000252444.9:c.819del
ENST00000455727.6:c.314-1921del ENSP00000397829.2:n.314-1921del
ENST00000535915.5:c.442del ENSP00000440520.1:p.Val148CysfsTer17
ENST00000545707.5:c.314-1094del ENSP00000437639.1:n.314-1094del
ENST00000557933.5:c.565del ENSP00000453557.1:p.Val189CysfsTer17
ENST00000558013.5:c.565del ENSP00000453346.1:p.Val189CysfsTer17
ENST00000558518.5:c.565del ENSP00000454071.1:p.Val189CysfsTer17
ENST00000560467.1:c.165del
NM_000527.4:c.565del , LRG_274t1:c.565del NP_000518.1:p.Val189CysfsTer17
NM_001195798.1:c.565del NP_001182727.1:p.Val189CysfsTer17
NM_001195799.1:c.442del NP_001182728.1:p.Val148CysfsTer17
NM_001195800.1:c.314-1921del NP_001182729.1:n.314-1921del
NM_001195803.1:c.314-1094del NP_001182732.1:n.314-1094del
XM_011528010.1:c.565del XP_011526312.1:p.Val189CysfsTer17
XM_011528011.1:c.314-1094del XP_011526313.1:n.314-1094del
XR_244074.2:n.715del
XM_011528010.2:c.565del XP_011526312.1:p.Val189CysfsTer17
XR_001753685.2:n.682del
XR_001753686.2:n.682del
NM_000527.5:c.565del MANE Select NP_000518.1:p.Val189CysfsTer17
NM_001195798.2:c.565del NP_001182727.1:p.Val189CysfsTer17
NM_001195799.2:c.442del NP_001182728.1:p.Val148CysfsTer17
NM_001195800.2:c.314-1921del NP_001182729.1:n.314-1921del
NM_001195803.2:c.314-1094del NP_001182732.1:n.314-1094del