Canonical Allele Identifier: CA645509294
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440684
ClinVar RCV Id: RCV000508813
dbSNP Id: rs1555808107

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123284del , CM000681.2:g.11123284del GRCh38
NC_000019.9:g.11233960del , CM000681.1:g.11233960del GRCh37
NC_000019.8:g.11094960del NCBI36
NG_009060.1:g.38904del , LRG_274:g.38904del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2509del ENSP00000252444.6:p.Arg837GlyfsTer14
ENST00000559340.2:c.*320del ENSP00000453696.2:n.*320del
ENST00000560467.2:c.2131del ENSP00000453513.2:p.Arg711GlyfsTer14
ENST00000558518.6:c.2251del MANE Select ENSP00000454071.1:p.Arg751GlyfsTer14
ENST00000252444.9:c.2505del
ENST00000455727.6:c.1747del ENSP00000397829.2:p.Arg583GlyfsTer14
ENST00000535915.5:c.2128del ENSP00000440520.1:p.Arg710GlyfsTer14
ENST00000545707.5:c.1717del ENSP00000437639.1:p.Arg573GlyfsTer14
ENST00000557933.5:c.2251del ENSP00000453557.1:p.Arg751GlyfsTer14
ENST00000558013.5:c.2251del ENSP00000453346.1:p.Arg751GlyfsTer14
ENST00000558518.5:c.2251del ENSP00000454071.1:p.Arg751GlyfsTer14
NM_000527.4:c.2251del , LRG_274t1:c.2251del NP_000518.1:p.Arg751GlyfsTer14
NM_001195798.1:c.2251del NP_001182727.1:p.Arg751GlyfsTer14
NM_001195799.1:c.2128del NP_001182728.1:p.Arg710GlyfsTer14
NM_001195800.1:c.1747del NP_001182729.1:p.Arg583GlyfsTer14
NM_001195803.1:c.1717del NP_001182732.1:p.Arg573GlyfsTer14
XM_011528010.1:c.2251del XP_011526312.1:p.Arg751GlyfsTer14
XM_011528011.1:c.1870del XP_011526313.1:p.Arg624GlyfsTer14
XR_244074.2:n.2261del
XM_011528010.2:c.2251del XP_011526312.1:p.Arg751GlyfsTer14
XR_001753685.2:n.2585del
XR_001753686.2:n.2228del
NM_000527.5:c.2251del MANE Select NP_000518.1:p.Arg751GlyfsTer14
NM_001195798.2:c.2251del NP_001182727.1:p.Arg751GlyfsTer14
NM_001195799.2:c.2128del NP_001182728.1:p.Arg710GlyfsTer14
NM_001195800.2:c.1747del NP_001182729.1:p.Arg583GlyfsTer14
NM_001195803.2:c.1717del NP_001182732.1:p.Arg573GlyfsTer14