Canonical Allele Identifier: CA645509260
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440581
ClinVar RCV Id: RCV000508900
dbSNP Id: rs879254573

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105463dup , CM000681.2:g.11105463dup GRCh38
NC_000019.9:g.11216139dup , CM000681.1:g.11216139dup GRCh37
NC_000019.8:g.11077139dup NCBI36
NG_009060.1:g.21083dup , LRG_274:g.21083dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.815dup ENSP00000252444.6:p.Leu273SerfsTer9
ENST00000559340.2:c.557dup ENSP00000453696.2:p.Leu187SerfsTer9
ENST00000560467.2:c.557dup ENSP00000453513.2:p.Leu187SerfsTer9
ENST00000558518.6:c.557dup MANE Select ENSP00000454071.1:p.Leu187SerfsTer9
ENST00000252444.9:c.811dup
ENST00000455727.6:c.314-1929dup ENSP00000397829.2:n.314-1929dup
ENST00000535915.5:c.434dup ENSP00000440520.1:p.Leu146SerfsTer9
ENST00000545707.5:c.314-1102dup ENSP00000437639.1:n.314-1102dup
ENST00000557933.5:c.557dup ENSP00000453557.1:p.Leu187SerfsTer9
ENST00000558013.5:c.557dup ENSP00000453346.1:p.Leu187SerfsTer9
ENST00000558518.5:c.557dup ENSP00000454071.1:p.Leu187SerfsTer9
ENST00000560467.1:c.157dup
NM_000527.4:c.557dup , LRG_274t1:c.557dup NP_000518.1:p.Leu187SerfsTer9
NM_001195798.1:c.557dup NP_001182727.1:p.Leu187SerfsTer9
NM_001195799.1:c.434dup NP_001182728.1:p.Leu146SerfsTer9
NM_001195800.1:c.314-1929dup NP_001182729.1:n.314-1929dup
NM_001195803.1:c.314-1102dup NP_001182732.1:n.314-1102dup
XM_011528010.1:c.557dup XP_011526312.1:p.Leu187SerfsTer9
XM_011528011.1:c.314-1102dup XP_011526313.1:n.314-1102dup
XR_244074.2:n.707dup
XM_011528010.2:c.557dup XP_011526312.1:p.Leu187SerfsTer9
XR_001753685.2:n.674dup
XR_001753686.2:n.674dup
NM_000527.5:c.557dup MANE Select NP_000518.1:p.Leu187SerfsTer9
NM_001195798.2:c.557dup NP_001182727.1:p.Leu187SerfsTer9
NM_001195799.2:c.434dup NP_001182728.1:p.Leu146SerfsTer9
NM_001195800.2:c.314-1929dup NP_001182729.1:n.314-1929dup
NM_001195803.2:c.314-1102dup NP_001182732.1:n.314-1102dup