Canonical Allele Identifier: CA645611974
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129533_11129534dup , CM000681.2:g.11129533_11129534dup GRCh38
NC_000019.9:g.11240209_11240210dup , CM000681.1:g.11240209_11240210dup GRCh37
NC_000019.8:g.11101209_11101210dup NCBI36
NG_009060.1:g.45153_45154dup , LRG_274:g.45153_45154dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2668_2669dup ENSP00000252444.6:p.Gly891TrpfsTer?
ENST00000559340.2:c.*479_*480dup ENSP00000453696.2:n.*479_*480dup
ENST00000560467.2:c.2290_2291dup ENSP00000453513.2:p.Gly765TrpfsTer?
ENST00000558518.6:c.2410_2411dup MANE Select ENSP00000454071.1:p.Gly805TrpfsTer?
ENST00000252444.9:c.2664_2665dup
ENST00000455727.6:c.1906_1907dup ENSP00000397829.2:p.Gly637TrpfsTer?
ENST00000535915.5:c.2287_2288dup ENSP00000440520.1:p.Gly764TrpfsTer?
ENST00000545707.5:c.1876_1877dup ENSP00000437639.1:p.Gly627TrpfsTer?
ENST00000557933.5:c.2472_2473dup ENSP00000453557.1:p.Trp825SerfsTer13
ENST00000558013.5:c.2410_2411dup ENSP00000453346.1:p.Gly805TrpfsTer?
ENST00000558518.5:c.2410_2411dup ENSP00000454071.1:p.Gly805TrpfsTer?
ENST00000560628.1:n.108+1879_108+1880dup
NM_000527.4:c.2410_2411dup , LRG_274t1:c.2410_2411dup NP_000518.1:p.Gly805TrpfsTer?
NM_001195798.1:c.2410_2411dup NP_001182727.1:p.Gly805TrpfsTer?
NM_001195799.1:c.2287_2288dup NP_001182728.1:p.Gly764TrpfsTer?
NM_001195800.1:c.1906_1907dup NP_001182729.1:p.Gly637TrpfsTer?
NM_001195803.1:c.1876_1877dup NP_001182732.1:p.Gly627TrpfsTer?
XM_011528010.1:c.2332_2333dup XP_011526312.1:p.Gly779TrpfsTer?
XM_011528011.1:c.2029_2030dup XP_011526313.1:p.Gly678TrpfsTer?
XR_244074.2:n.2420_2421dup
XM_011528010.2:c.2332_2333dup XP_011526312.1:p.Gly779TrpfsTer?
XR_001753685.2:n.2744_2745dup
XR_001753686.2:n.2387_2388dup
NM_000527.5:c.2410_2411dup MANE Select NP_000518.1:p.Gly805TrpfsTer?
NM_001195798.2:c.2410_2411dup NP_001182727.1:p.Gly805TrpfsTer?
NM_001195799.2:c.2287_2288dup NP_001182728.1:p.Gly764TrpfsTer?
NM_001195800.2:c.1906_1907dup NP_001182729.1:p.Gly637TrpfsTer?
NM_001195803.2:c.1876_1877dup NP_001182732.1:p.Gly627TrpfsTer?