Canonical Allele Identifier: CA916080181
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 838240
ClinVar RCV Id: RCV001039748
dbSNP Id: rs2077297994

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106569_11106578del , CM000681.2:g.11106569_11106578del GRCh38
NC_000019.9:g.11217245_11217254del , CM000681.1:g.11217245_11217254del GRCh37
NC_000019.8:g.11078245_11078254del NCBI36
NG_009060.1:g.22189_22198del , LRG_274:g.22189_22198del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.957_966del ENSP00000252444.6:p.Thr321LeufsTer27
ENST00000559340.2:c.699_708del ENSP00000453696.2:p.Thr235LeufsTer27
ENST00000560467.2:c.699_708del ENSP00000453513.2:p.Thr235LeufsTer27
ENST00000558518.6:c.699_708del MANE Select ENSP00000454071.1:p.Thr235LeufsTer27
ENST00000252444.9:c.953_962del
ENST00000455727.6:c.314-823_314-814del ENSP00000397829.2:n.314-823_314-814del
ENST00000535915.5:c.576_585del ENSP00000440520.1:p.Thr194LeufsTer27
ENST00000545707.5:c.318_327del ENSP00000437639.1:p.Thr108LeufsTer27
ENST00000557933.5:c.699_708del ENSP00000453557.1:p.Thr235LeufsTer27
ENST00000558013.5:c.699_708del ENSP00000453346.1:p.Thr235LeufsTer27
ENST00000558518.5:c.699_708del ENSP00000454071.1:p.Thr235LeufsTer27
ENST00000558528.1:n.214_223del
ENST00000560467.1:c.299_308del
NM_000527.4:c.699_708del , LRG_274t1:c.699_708del NP_000518.1:p.Thr235LeufsTer27
NM_001195798.1:c.699_708del NP_001182727.1:p.Thr235LeufsTer27
NM_001195799.1:c.576_585del NP_001182728.1:p.Thr194LeufsTer27
NM_001195800.1:c.314-823_314-814del NP_001182729.1:n.314-823_314-814del
NM_001195803.1:c.318_327del NP_001182732.1:p.Thr108LeufsTer27
XM_011528010.1:c.699_708del XP_011526312.1:p.Thr235LeufsTer27
XM_011528011.1:c.318_327del XP_011526313.1:p.Thr108LeufsTer27
XR_244074.2:n.849_858del
XM_011528010.2:c.699_708del XP_011526312.1:p.Thr235LeufsTer27
XR_001753685.2:n.816_825del
XR_001753686.2:n.816_825del
NM_000527.5:c.699_708del MANE Select NP_000518.1:p.Thr235LeufsTer27
NM_001195798.2:c.699_708del NP_001182727.1:p.Thr235LeufsTer27
NM_001195799.2:c.576_585del NP_001182728.1:p.Thr194LeufsTer27
NM_001195800.2:c.314-823_314-814del NP_001182729.1:n.314-823_314-814del
NM_001195803.2:c.318_327del NP_001182732.1:p.Thr108LeufsTer27