Canonical Allele Identifier: CA2499225313
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1075416
ClinVar RCV Id: RCV001389014
dbSNP Id: rs2077282376

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105584_11105587dup , CM000681.2:g.11105584_11105587dup GRCh38
NC_000019.9:g.11216260_11216263dup , CM000681.1:g.11216260_11216263dup GRCh37
NC_000019.8:g.11077260_11077263dup NCBI36
NG_009060.1:g.21204_21207dup , LRG_274:g.21204_21207dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.936_939dup ENSP00000252444.6:p.Glu314Ter
ENST00000559340.2:c.678_681dup ENSP00000453696.2:p.Glu228Ter
ENST00000560467.2:c.678_681dup ENSP00000453513.2:p.Glu228Ter
ENST00000558518.6:c.678_681dup MANE Select ENSP00000454071.1:p.Glu228Ter
ENST00000252444.9:c.932_935dup
ENST00000455727.6:c.314-1808_314-1805dup ENSP00000397829.2:n.314-1808_314-1805dup
ENST00000535915.5:c.555_558dup ENSP00000440520.1:p.Glu187Ter
ENST00000545707.5:c.314-981_314-978dup ENSP00000437639.1:n.314-981_314-978dup
ENST00000557933.5:c.678_681dup ENSP00000453557.1:p.Glu228Ter
ENST00000558013.5:c.678_681dup ENSP00000453346.1:p.Glu228Ter
ENST00000558518.5:c.678_681dup ENSP00000454071.1:p.Glu228Ter
ENST00000560467.1:c.278_281dup
NM_000527.4:c.678_681dup , LRG_274t1:c.678_681dup NP_000518.1:p.Glu228Ter
NM_001195798.1:c.678_681dup NP_001182727.1:p.Glu228Ter
NM_001195799.1:c.555_558dup NP_001182728.1:p.Glu187Ter
NM_001195800.1:c.314-1808_314-1805dup NP_001182729.1:n.314-1808_314-1805dup
NM_001195803.1:c.314-981_314-978dup NP_001182732.1:n.314-981_314-978dup
XM_011528010.1:c.678_681dup XP_011526312.1:p.Glu228Ter
XM_011528011.1:c.314-981_314-978dup XP_011526313.1:n.314-981_314-978dup
XR_244074.2:n.828_831dup
XM_011528010.2:c.678_681dup XP_011526312.1:p.Glu228Ter
XR_001753685.2:n.795_798dup
XR_001753686.2:n.795_798dup
NM_000527.5:c.678_681dup MANE Select NP_000518.1:p.Glu228Ter
NM_001195798.2:c.678_681dup NP_001182727.1:p.Glu228Ter
NM_001195799.2:c.555_558dup NP_001182728.1:p.Glu187Ter
NM_001195800.2:c.314-1808_314-1805dup NP_001182729.1:n.314-1808_314-1805dup
NM_001195803.2:c.314-981_314-978dup NP_001182732.1:n.314-981_314-978dup