Canonical Allele Identifier: CA2573156039
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1459377
ClinVar RCV Id: RCV001975212
dbSNP Id: rs2147272953

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123227_11123231dup , CM000681.2:g.11123227_11123231dup GRCh38
NC_000019.9:g.11233903_11233907dup , CM000681.1:g.11233903_11233907dup GRCh37
NC_000019.8:g.11094903_11094907dup NCBI36
NG_009060.1:g.38847_38851dup , LRG_274:g.38847_38851dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2452_2456dup ENSP00000252444.6:p.Thr820AlafsTer5
ENST00000559340.2:c.*263_*267dup ENSP00000453696.2:n.*263_*267dup
ENST00000560467.2:c.2074_2078dup ENSP00000453513.2:p.Thr694AlafsTer5
ENST00000558518.6:c.2194_2198dup MANE Select ENSP00000454071.1:p.Thr734AlafsTer5
ENST00000252444.9:c.2448_2452dup
ENST00000455727.6:c.1690_1694dup ENSP00000397829.2:p.Thr566AlafsTer5
ENST00000535915.5:c.2071_2075dup ENSP00000440520.1:p.Thr693AlafsTer5
ENST00000545707.5:c.1660_1664dup ENSP00000437639.1:p.Thr556AlafsTer5
ENST00000557933.5:c.2194_2198dup ENSP00000453557.1:p.Thr734AlafsTer5
ENST00000558013.5:c.2194_2198dup ENSP00000453346.1:p.Thr734AlafsTer5
ENST00000558518.5:c.2194_2198dup ENSP00000454071.1:p.Thr734AlafsTer5
NM_000527.4:c.2194_2198dup , LRG_274t1:c.2194_2198dup NP_000518.1:p.Thr734AlafsTer5
NM_001195798.1:c.2194_2198dup NP_001182727.1:p.Thr734AlafsTer5
NM_001195799.1:c.2071_2075dup NP_001182728.1:p.Thr693AlafsTer5
NM_001195800.1:c.1690_1694dup NP_001182729.1:p.Thr566AlafsTer5
NM_001195803.1:c.1660_1664dup NP_001182732.1:p.Thr556AlafsTer5
XM_011528010.1:c.2194_2198dup XP_011526312.1:p.Thr734AlafsTer5
XM_011528011.1:c.1813_1817dup XP_011526313.1:p.Thr607AlafsTer5
XR_244074.2:n.2204_2208dup
XM_011528010.2:c.2194_2198dup XP_011526312.1:p.Thr734AlafsTer5
XR_001753685.2:n.2528_2532dup
XR_001753686.2:n.2171_2175dup
NM_000527.5:c.2194_2198dup MANE Select NP_000518.1:p.Thr734AlafsTer5
NM_001195798.2:c.2194_2198dup NP_001182727.1:p.Thr734AlafsTer5
NM_001195799.2:c.2071_2075dup NP_001182728.1:p.Thr693AlafsTer5
NM_001195800.2:c.1690_1694dup NP_001182729.1:p.Thr566AlafsTer5
NM_001195803.2:c.1660_1664dup NP_001182732.1:p.Thr556AlafsTer5