Canonical Allele Identifier: CA2580096346
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1792272
ClinVar RCV Id: RCV002455623

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129625dup , CM000681.2:g.11129625dup GRCh38
NC_000019.9:g.11240301dup , CM000681.1:g.11240301dup GRCh37
NC_000019.8:g.11101301dup NCBI36
NG_009060.1:g.45245dup , LRG_274:g.45245dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2760dup ENSP00000252444.6:p.Glu921Ter
ENST00000559340.2:c.*571dup ENSP00000453696.2:n.*571dup
ENST00000560467.2:c.2382dup ENSP00000453513.2:p.Glu795Ter
ENST00000558518.6:c.2502dup MANE Select ENSP00000454071.1:p.Glu835Ter
ENST00000252444.9:c.2756dup
ENST00000455727.6:c.1998dup ENSP00000397829.2:p.Glu667Ter
ENST00000535915.5:c.2379dup ENSP00000440520.1:p.Glu794Ter
ENST00000545707.5:c.1968dup ENSP00000437639.1:p.Glu657Ter
ENST00000557933.5:c.2564dup ENSP00000453557.1:p.Met855IlefsTer28
ENST00000558013.5:c.2502dup ENSP00000453346.1:p.Glu835Ter
ENST00000558518.5:c.2502dup ENSP00000454071.1:p.Glu835Ter
ENST00000560628.1:n.108+1971dup
NM_000527.4:c.2502dup , LRG_274t1:c.2502dup NP_000518.1:p.Glu835Ter
NM_001195798.1:c.2502dup NP_001182727.1:p.Glu835Ter
NM_001195799.1:c.2379dup NP_001182728.1:p.Glu794Ter
NM_001195800.1:c.1998dup NP_001182729.1:p.Glu667Ter
NM_001195803.1:c.1968dup NP_001182732.1:p.Glu657Ter
XM_011528010.1:c.2424dup XP_011526312.1:p.Glu809Ter
XM_011528011.1:c.2121dup XP_011526313.1:p.Glu708Ter
XM_011528010.2:c.2424dup XP_011526312.1:p.Glu809Ter
XR_001753685.2:n.2836dup
XR_001753686.2:n.2479dup
NM_000527.5:c.2502dup MANE Select NP_000518.1:p.Glu835Ter
NM_001195798.2:c.2502dup NP_001182727.1:p.Glu835Ter
NM_001195799.2:c.2379dup NP_001182728.1:p.Glu794Ter
NM_001195800.2:c.1998dup NP_001182729.1:p.Glu667Ter
NM_001195803.2:c.1968dup NP_001182732.1:p.Glu657Ter