Canonical Allele Identifier: CA16602348
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375834
ClinVar RCV Id: RCV000417262
dbSNP Id: rs1057519685

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120516dup , CM000681.2:g.11120516dup GRCh38
NC_000019.9:g.11231192dup , CM000681.1:g.11231192dup GRCh37
NC_000019.8:g.11092192dup NCBI36
NG_009060.1:g.36136dup , LRG_274:g.36136dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2392dup ENSP00000252444.6:p.Leu798ProfsTer5
ENST00000559340.2:c.*203dup ENSP00000453696.2:n.*203dup
ENST00000560467.2:c.2014dup ENSP00000453513.2:p.Leu672ProfsTer5
ENST00000558518.6:c.2134dup MANE Select ENSP00000454071.1:p.Leu712ProfsTer5
ENST00000252444.9:c.2388dup
ENST00000455727.6:c.1630dup ENSP00000397829.2:p.Leu544ProfsTer5
ENST00000535915.5:c.2011dup ENSP00000440520.1:p.Leu671ProfsTer5
ENST00000545707.5:c.1606+283dup ENSP00000437639.1:n.1606+283dup
ENST00000557933.5:c.2134dup ENSP00000453557.1:p.Leu712ProfsTer5
ENST00000558013.5:c.2134dup ENSP00000453346.1:p.Leu712ProfsTer5
ENST00000558518.5:c.2134dup ENSP00000454071.1:p.Leu712ProfsTer5
NM_000527.4:c.2134dup , LRG_274t1:c.2134dup NP_000518.1:p.Leu712ProfsTer5
NM_001195798.1:c.2134dup NP_001182727.1:p.Leu712ProfsTer5
NM_001195799.1:c.2011dup NP_001182728.1:p.Leu671ProfsTer5
NM_001195800.1:c.1630dup NP_001182729.1:p.Leu544ProfsTer5
NM_001195803.1:c.1606+283dup NP_001182732.1:n.1606+283dup
XM_011528010.1:c.2134dup XP_011526312.1:p.Leu712ProfsTer5
XM_011528011.1:c.1753dup XP_011526313.1:p.Leu585ProfsTer5
XR_244074.2:n.2144dup
XM_011528010.2:c.2134dup XP_011526312.1:p.Leu712ProfsTer5
XR_001753685.2:n.2251dup
XR_001753686.2:n.2111dup
NM_000527.5:c.2134dup MANE Select NP_000518.1:p.Leu712ProfsTer5
NM_001195798.2:c.2134dup NP_001182727.1:p.Leu712ProfsTer5
NM_001195799.2:c.2011dup NP_001182728.1:p.Leu671ProfsTer5
NM_001195800.2:c.1630dup NP_001182729.1:p.Leu544ProfsTer5
NM_001195803.2:c.1606+283dup NP_001182732.1:n.1606+283dup