Canonical Allele Identifier: CA2830773961
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129582_11129583insAAAG , CM000681.2:g.11129582_11129583insAAAG GRCh38
NC_000019.9:g.11240258_11240259insAAAG , CM000681.1:g.11240258_11240259insAAAG GRCh37
NC_000019.8:g.11101258_11101259insAAAG NCBI36
NG_009060.1:g.45202_45203insAAAG , LRG_274:g.45202_45203insAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2717_2718insAAAG ENSP00000252444.6:p.Ser906ArgfsTer6
ENST00000559340.2:c.*528_*529insAAAG ENSP00000453696.2:n.*528_*529insAAAG
ENST00000560467.2:c.2339_2340insAAAG ENSP00000453513.2:p.Ser780ArgfsTer6
ENST00000558518.6:c.2459_2460insAAAG MANE Select ENSP00000454071.1:p.Ser820ArgfsTer6
ENST00000252444.9:c.2713_2714insAAAG
ENST00000455727.6:c.1955_1956insAAAG ENSP00000397829.2:p.Ser652ArgfsTer6
ENST00000535915.5:c.2336_2337insAAAG ENSP00000440520.1:p.Ser779ArgfsTer6
ENST00000545707.5:c.1925_1926insAAAG ENSP00000437639.1:p.Ser642ArgfsTer6
ENST00000557933.5:c.2521_2522insAAAG ENSP00000453557.1:p.Ala841GlufsTer?
ENST00000558013.5:c.2459_2460insAAAG ENSP00000453346.1:p.Ser820ArgfsTer6
ENST00000558518.5:c.2459_2460insAAAG ENSP00000454071.1:p.Ser820ArgfsTer6
ENST00000560628.1:n.108+1928_108+1929insAAAG
NM_000527.4:c.2459_2460insAAAG , LRG_274t1:c.2459_2460insAAAG NP_000518.1:p.Ser820ArgfsTer6
NM_001195798.1:c.2459_2460insAAAG NP_001182727.1:p.Ser820ArgfsTer6
NM_001195799.1:c.2336_2337insAAAG NP_001182728.1:p.Ser779ArgfsTer6
NM_001195800.1:c.1955_1956insAAAG NP_001182729.1:p.Ser652ArgfsTer6
NM_001195803.1:c.1925_1926insAAAG NP_001182732.1:p.Ser642ArgfsTer6
XM_011528010.1:c.2381_2382insAAAG XP_011526312.1:p.Ser794ArgfsTer6
XM_011528011.1:c.2078_2079insAAAG XP_011526313.1:p.Ser693ArgfsTer6
XM_011528010.2:c.2381_2382insAAAG XP_011526312.1:p.Ser794ArgfsTer6
XR_001753685.2:n.2793_2794insAAAG
XR_001753686.2:n.2436_2437insAAAG
NM_000527.5:c.2459_2460insAAAG MANE Select NP_000518.1:p.Ser820ArgfsTer6
NM_001195798.2:c.2459_2460insAAAG NP_001182727.1:p.Ser820ArgfsTer6
NM_001195799.2:c.2336_2337insAAAG NP_001182728.1:p.Ser779ArgfsTer6
NM_001195800.2:c.1955_1956insAAAG NP_001182729.1:p.Ser652ArgfsTer6
NM_001195803.2:c.1925_1926insAAAG NP_001182732.1:p.Ser642ArgfsTer6