Canonical Allele Identifier: CA2695228158
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120131_11120132insCA , CM000681.2:g.11120131_11120132insCA GRCh38
NC_000019.9:g.11230807_11230808insCA , CM000681.1:g.11230807_11230808insCA GRCh37
NC_000019.8:g.11091807_11091808insCA NCBI36
NG_009060.1:g.35751_35752insCA , LRG_274:g.35751_35752insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2143_2144insCA ENSP00000252444.6:p.Phe715SerfsTer?
ENST00000559340.2:c.1745_1746insCA ENSP00000453696.2:p.Gln583IlefsTer?
ENST00000560467.2:c.1765_1766insCA ENSP00000453513.2:p.Phe589SerfsTer?
ENST00000558518.6:c.1885_1886insCA MANE Select ENSP00000454071.1:p.Phe629SerfsTer?
ENST00000252444.9:c.2139_2140insCA
ENST00000455727.6:c.1381_1382insCA ENSP00000397829.2:p.Phe461SerfsTer?
ENST00000535915.5:c.1762_1763insCA ENSP00000440520.1:p.Phe588SerfsTer?
ENST00000545707.5:c.1504_1505insCA ENSP00000437639.1:p.Phe502SerfsTer?
ENST00000557933.5:c.1885_1886insCA ENSP00000453557.1:p.Phe629SerfsTer?
ENST00000558013.5:c.1885_1886insCA ENSP00000453346.1:p.Phe629SerfsTer?
ENST00000558518.5:c.1885_1886insCA ENSP00000454071.1:p.Phe629SerfsTer?
ENST00000559340.1:c.466_467insCA
NM_000527.4:c.1885_1886insCA , LRG_274t1:c.1885_1886insCA NP_000518.1:p.Phe629SerfsTer?
NM_001195798.1:c.1885_1886insCA NP_001182727.1:p.Phe629SerfsTer?
NM_001195799.1:c.1762_1763insCA NP_001182728.1:p.Phe588SerfsTer?
NM_001195800.1:c.1381_1382insCA NP_001182729.1:p.Phe461SerfsTer?
NM_001195803.1:c.1504_1505insCA NP_001182732.1:p.Phe502SerfsTer?
XM_011528010.1:c.1885_1886insCA XP_011526312.1:p.Phe629SerfsTer?
XM_011528011.1:c.1504_1505insCA XP_011526313.1:p.Phe502SerfsTer?
XR_244074.2:n.1895_1896insCA
XM_011528010.2:c.1885_1886insCA XP_011526312.1:p.Phe629SerfsTer?
XR_001753685.2:n.2002_2003insCA
XR_001753686.2:n.1862_1863insCA
NM_000527.5:c.1885_1886insCA MANE Select NP_000518.1:p.Phe629SerfsTer?
NM_001195798.2:c.1885_1886insCA NP_001182727.1:p.Phe629SerfsTer?
NM_001195799.2:c.1762_1763insCA NP_001182728.1:p.Phe588SerfsTer?
NM_001195800.2:c.1381_1382insCA NP_001182729.1:p.Phe461SerfsTer?
NM_001195803.2:c.1504_1505insCA NP_001182732.1:p.Phe502SerfsTer?