Canonical Allele Identifier: CA16602349
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375836
ClinVar RCV Id: RCV000417342
dbSNP Id: rs1057519686

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123320dup , CM000681.2:g.11123320dup GRCh38
NC_000019.9:g.11233996dup , CM000681.1:g.11233996dup GRCh37
NC_000019.8:g.11094996dup NCBI36
NG_009060.1:g.38940dup , LRG_274:g.38940dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2545dup ENSP00000252444.6:p.Glu849GlyfsTer19
ENST00000559340.2:c.*356dup ENSP00000453696.2:n.*356dup
ENST00000560467.2:c.2167dup ENSP00000453513.2:p.Glu723GlyfsTer19
ENST00000558518.6:c.2287dup MANE Select ENSP00000454071.1:p.Glu763GlyfsTer19
ENST00000252444.9:c.2541dup
ENST00000455727.6:c.1783dup ENSP00000397829.2:p.Glu595GlyfsTer19
ENST00000535915.5:c.2164dup ENSP00000440520.1:p.Glu722GlyfsTer19
ENST00000545707.5:c.1753dup ENSP00000437639.1:p.Glu585GlyfsTer19
ENST00000557933.5:c.2287dup ENSP00000453557.1:p.Glu763GlyfsTer19
ENST00000558013.5:c.2287dup ENSP00000453346.1:p.Glu763GlyfsTer19
ENST00000558518.5:c.2287dup ENSP00000454071.1:p.Glu763GlyfsTer19
NM_000527.4:c.2287dup , LRG_274t1:c.2287dup NP_000518.1:p.Glu763GlyfsTer19
NM_001195798.1:c.2287dup NP_001182727.1:p.Glu763GlyfsTer19
NM_001195799.1:c.2164dup NP_001182728.1:p.Glu722GlyfsTer19
NM_001195800.1:c.1783dup NP_001182729.1:p.Glu595GlyfsTer19
NM_001195803.1:c.1753dup NP_001182732.1:p.Glu585GlyfsTer19
XM_011528010.1:c.2287dup XP_011526312.1:p.Glu763GlyfsTer28
XM_011528011.1:c.1906dup XP_011526313.1:p.Glu636GlyfsTer19
XR_244074.2:n.2297dup
XM_011528010.2:c.2287dup XP_011526312.1:p.Glu763GlyfsTer28
XR_001753685.2:n.2621dup
XR_001753686.2:n.2264dup
NM_000527.5:c.2287dup MANE Select NP_000518.1:p.Glu763GlyfsTer19
NM_001195798.2:c.2287dup NP_001182727.1:p.Glu763GlyfsTer19
NM_001195799.2:c.2164dup NP_001182728.1:p.Glu722GlyfsTer19
NM_001195800.2:c.1783dup NP_001182729.1:p.Glu595GlyfsTer19
NM_001195803.2:c.1753dup NP_001182732.1:p.Glu585GlyfsTer19