Canonical Allele Identifier: CA645509266
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 438696
ClinVar RCV Id: RCV000505619
dbSNP Id: rs1555803481

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105589del , CM000681.2:g.11105589del GRCh38
NC_000019.9:g.11216265del , CM000681.1:g.11216265del GRCh37
NC_000019.8:g.11077265del NCBI36
NG_009060.1:g.21209del , LRG_274:g.21209del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.941del ENSP00000252444.6:p.Glu314GlyfsTer?
ENST00000559340.2:c.683del ENSP00000453696.2:p.Glu228GlyfsTer?
ENST00000560467.2:c.683del ENSP00000453513.2:p.Glu228GlyfsTer?
ENST00000558518.6:c.683del MANE Select ENSP00000454071.1:p.Glu228GlyfsTer?
ENST00000252444.9:c.937del
ENST00000455727.6:c.314-1803del ENSP00000397829.2:n.314-1803del
ENST00000535915.5:c.560del ENSP00000440520.1:p.Glu187GlyfsTer?
ENST00000545707.5:c.314-976del ENSP00000437639.1:n.314-976del
ENST00000557933.5:c.683del ENSP00000453557.1:p.Glu228GlyfsTer?
ENST00000558013.5:c.683del ENSP00000453346.1:p.Glu228GlyfsTer?
ENST00000558518.5:c.683del ENSP00000454071.1:p.Glu228GlyfsTer?
ENST00000560467.1:c.283del
NM_000527.4:c.683del , LRG_274t1:c.683del NP_000518.1:p.Glu228GlyfsTer?
NM_001195798.1:c.683del NP_001182727.1:p.Glu228GlyfsTer?
NM_001195799.1:c.560del NP_001182728.1:p.Glu187GlyfsTer?
NM_001195800.1:c.314-1803del NP_001182729.1:n.314-1803del
NM_001195803.1:c.314-976del NP_001182732.1:n.314-976del
XM_011528010.1:c.683del XP_011526312.1:p.Glu228GlyfsTer?
XM_011528011.1:c.314-976del XP_011526313.1:n.314-976del
XR_244074.2:n.833del
XM_011528010.2:c.683del XP_011526312.1:p.Glu228GlyfsTer?
XR_001753685.2:n.800del
XR_001753686.2:n.800del
NM_000527.5:c.683del MANE Select NP_000518.1:p.Glu228GlyfsTer?
NM_001195798.2:c.683del NP_001182727.1:p.Glu228GlyfsTer?
NM_001195799.2:c.560del NP_001182728.1:p.Glu187GlyfsTer?
NM_001195800.2:c.314-1803del NP_001182729.1:n.314-1803del
NM_001195803.2:c.314-976del NP_001182732.1:n.314-976del