Canonical Allele Identifier: CA2322779567
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128086_11128090delinsGTAAG , CM000681.2:g.11128086_11128090delinsGTAAG GRCh38
NC_000019.9:g.11238762_11238766delinsGTAAG , CM000681.1:g.11238762_11238766delinsGTAAG GRCh37
NC_000019.8:g.11099762_11099766delinsGTAAG NCBI36
NG_009060.1:g.43706_43710delinsGTAAG , LRG_274:g.43706_43710delinsGTAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2647+1_2647+5delinsGTAAG ENSP00000252444.6:n.2647+1_2647+5delinsGTAAG
ENST00000559340.2:c.*458+1_*458+5delinsGTAAG ENSP00000453696.2:n.*458+1_*458+5delinsGTAAG
ENST00000560467.2:c.2269+1_2269+5delinsGTAAG ENSP00000453513.2:n.2269+1_2269+5delinsGTAAG
ENST00000558518.6:c.2389+1_2389+5delinsGTAAG MANE Select ENSP00000454071.1:n.2389+1_2389+5delinsGTAAG
ENST00000252444.9:c.2643+1_2643+5delinsGTAAG
ENST00000455727.6:c.1885+1_1885+5delinsGTAAG ENSP00000397829.2:n.1885+1_1885+5delinsGTAAG
ENST00000535915.5:c.2266+1_2266+5delinsGTAAG ENSP00000440520.1:n.2266+1_2266+5delinsGTAAG
ENST00000545707.5:c.1855+1_1855+5delinsGTAAG ENSP00000437639.1:n.1855+1_1855+5delinsGTAAG
ENST00000557933.5:c.2389+1_2389+5delinsGTAAG ENSP00000453557.1:n.2389+1_2389+5delinsGTAAG
ENST00000558013.5:c.2389+1_2389+5delinsGTAAG ENSP00000453346.1:n.2389+1_2389+5delinsGTAAG
ENST00000558518.5:c.2389+1_2389+5delinsGTAAG ENSP00000454071.1:n.2389+1_2389+5delinsGTAAG
ENST00000560628.1:n.108+432_108+436delinsGTAAG
NM_000527.4:c.2389+1_2389+5delinsGTAAG , LRG_274t1:c.2389+1_2389+5delinsGTAAG NP_000518.1:n.2389+1_2389+5delinsGTAAG
NM_001195798.1:c.2389+1_2389+5delinsGTAAG NP_001182727.1:n.2389+1_2389+5delinsGTAAG
NM_001195799.1:c.2266+1_2266+5delinsGTAAG NP_001182728.1:n.2266+1_2266+5delinsGTAAG
NM_001195800.1:c.1885+1_1885+5delinsGTAAG NP_001182729.1:n.1885+1_1885+5delinsGTAAG
NM_001195803.1:c.1855+1_1855+5delinsGTAAG NP_001182732.1:n.1855+1_1855+5delinsGTAAG
XM_011528010.1:c.2312-1427_2312-1423delinsGTAAG XP_011526312.1:n.2312-1427_2312-1423delinsGTAAG
XM_011528011.1:c.2008+1_2008+5delinsGTAAG XP_011526313.1:n.2008+1_2008+5delinsGTAAG
XR_244074.2:n.2399+1_2399+5delinsGTAAG
XM_011528010.2:c.2312-1427_2312-1423delinsGTAAG XP_011526312.1:n.2312-1427_2312-1423delinsGTAAG
XR_001753685.2:n.2723+1_2723+5delinsGTAAG
XR_001753686.2:n.2366+1_2366+5delinsGTAAG
NM_000527.5:c.2389+1_2389+5delinsGTAAG MANE Select NP_000518.1:n.2389+1_2389+5delinsGTAAG
NM_001195798.2:c.2389+1_2389+5delinsGTAAG NP_001182727.1:n.2389+1_2389+5delinsGTAAG
NM_001195799.2:c.2266+1_2266+5delinsGTAAG NP_001182728.1:n.2266+1_2266+5delinsGTAAG
NM_001195800.2:c.1885+1_1885+5delinsGTAAG NP_001182729.1:n.1885+1_1885+5delinsGTAAG
NM_001195803.2:c.1855+1_1855+5delinsGTAAG NP_001182732.1:n.1855+1_1855+5delinsGTAAG