Canonical Allele Identifier: CA2695228327
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129513_11129530dup , CM000681.2:g.11129513_11129530dup GRCh38
NC_000019.9:g.11240189_11240206dup , CM000681.1:g.11240189_11240206dup GRCh37
NC_000019.8:g.11101189_11101206dup NCBI36
NG_009060.1:g.45133_45150dup , LRG_274:g.45133_45150dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2648_2665dup ENSP00000252444.6:p.Leu888_Cys889insLeuLeuLeuValPheLeu
ENST00000559340.2:c.*459_*476dup ENSP00000453696.2:n.*459_*476dup
ENST00000560467.2:c.2270_2287dup ENSP00000453513.2:p.Leu762_Cys763insLeuLeuLeuValPheLeu
ENST00000558518.6:c.2390_2407dup MANE Select ENSP00000454071.1:p.Leu802_Cys803insLeuLeuLeuValPheLeu
ENST00000252444.9:c.2644_2661dup
ENST00000455727.6:c.1886_1903dup ENSP00000397829.2:p.Leu634_Cys635insLeuLeuLeuValPheLeu
ENST00000535915.5:c.2267_2284dup ENSP00000440520.1:p.Leu761_Cys762insLeuLeuLeuValPheLeu
ENST00000545707.5:c.1856_1873dup ENSP00000437639.1:p.Leu624_Cys625insLeuLeuLeuValPheLeu
ENST00000557933.5:c.2452_2469dup ENSP00000453557.1:p.Phe823_Ala824insCysSerSerSerSerPhe
ENST00000558013.5:c.2390_2407dup ENSP00000453346.1:p.Leu802_Cys803insLeuLeuLeuValPheLeu
ENST00000558518.5:c.2390_2407dup ENSP00000454071.1:p.Leu802_Cys803insLeuLeuLeuValPheLeu
ENST00000560628.1:n.108+1859_108+1876dup
NM_000527.4:c.2390_2407dup , LRG_274t1:c.2390_2407dup NP_000518.1:p.Leu802_Cys803insLeuLeuLeuValPheLeu
NM_001195798.1:c.2390_2407dup NP_001182727.1:p.Leu802_Cys803insLeuLeuLeuValPheLeu
NM_001195799.1:c.2267_2284dup NP_001182728.1:p.Leu761_Cys762insLeuLeuLeuValPheLeu
NM_001195800.1:c.1886_1903dup NP_001182729.1:p.Leu634_Cys635insLeuLeuLeuValPheLeu
NM_001195803.1:c.1856_1873dup NP_001182732.1:p.Leu624_Cys625insLeuLeuLeuValPheLeu
XM_011528010.1:c.2312_2329dup XP_011526312.1:p.Leu776_Cys777insLeuLeuLeuValPheLeu
XM_011528011.1:c.2009_2026dup XP_011526313.1:p.Leu675_Cys676insLeuLeuLeuValPheLeu
XR_244074.2:n.2400_2417dup
XM_011528010.2:c.2312_2329dup XP_011526312.1:p.Leu776_Cys777insLeuLeuLeuValPheLeu
XR_001753685.2:n.2724_2741dup
XR_001753686.2:n.2367_2384dup
NM_000527.5:c.2390_2407dup MANE Select NP_000518.1:p.Leu802_Cys803insLeuLeuLeuValPheLeu
NM_001195798.2:c.2390_2407dup NP_001182727.1:p.Leu802_Cys803insLeuLeuLeuValPheLeu
NM_001195799.2:c.2267_2284dup NP_001182728.1:p.Leu761_Cys762insLeuLeuLeuValPheLeu
NM_001195800.2:c.1886_1903dup NP_001182729.1:p.Leu634_Cys635insLeuLeuLeuValPheLeu
NM_001195803.2:c.1856_1873dup NP_001182732.1:p.Leu624_Cys625insLeuLeuLeuValPheLeu