Canonical Allele Identifier: CA2580096309
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2133381
ClinVar RCV Id: RCV003040899

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129518dup , CM000681.2:g.11129518dup GRCh38
NC_000019.9:g.11240194dup , CM000681.1:g.11240194dup GRCh37
NC_000019.8:g.11101194dup NCBI36
NG_009060.1:g.45138dup , LRG_274:g.45138dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2653dup ENSP00000252444.6:p.Leu885ProfsTer18
ENST00000559340.2:c.*464dup ENSP00000453696.2:n.*464dup
ENST00000560467.2:c.2275dup ENSP00000453513.2:p.Leu759ProfsTer18
ENST00000558518.6:c.2395dup MANE Select ENSP00000454071.1:p.Leu799ProfsTer18
ENST00000252444.9:c.2649dup
ENST00000455727.6:c.1891dup ENSP00000397829.2:p.Leu631ProfsTer18
ENST00000535915.5:c.2272dup ENSP00000440520.1:p.Leu758ProfsTer18
ENST00000545707.5:c.1861dup ENSP00000437639.1:p.Leu621ProfsTer18
ENST00000557933.5:c.2457dup ENSP00000453557.1:p.Ser820LeufsTer?
ENST00000558013.5:c.2395dup ENSP00000453346.1:p.Leu799ProfsTer18
ENST00000558518.5:c.2395dup ENSP00000454071.1:p.Leu799ProfsTer18
ENST00000560628.1:n.108+1864dup
NM_000527.4:c.2395dup , LRG_274t1:c.2395dup NP_000518.1:p.Leu799ProfsTer18
NM_001195798.1:c.2395dup NP_001182727.1:p.Leu799ProfsTer18
NM_001195799.1:c.2272dup NP_001182728.1:p.Leu758ProfsTer18
NM_001195800.1:c.1891dup NP_001182729.1:p.Leu631ProfsTer18
NM_001195803.1:c.1861dup NP_001182732.1:p.Leu621ProfsTer18
XM_011528010.1:c.2317dup XP_011526312.1:p.Leu773ProfsTer18
XM_011528011.1:c.2014dup XP_011526313.1:p.Leu672ProfsTer18
XR_244074.2:n.2405dup
XM_011528010.2:c.2317dup XP_011526312.1:p.Leu773ProfsTer18
XR_001753685.2:n.2729dup
XR_001753686.2:n.2372dup
NM_000527.5:c.2395dup MANE Select NP_000518.1:p.Leu799ProfsTer18
NM_001195798.2:c.2395dup NP_001182727.1:p.Leu799ProfsTer18
NM_001195799.2:c.2272dup NP_001182728.1:p.Leu758ProfsTer18
NM_001195800.2:c.1891dup NP_001182729.1:p.Leu631ProfsTer18
NM_001195803.2:c.1861dup NP_001182732.1:p.Leu621ProfsTer18