Canonical Allele Identifier: CA2697556246
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2753412
ClinVar RCV Id: RCV003582900

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128080_11128087del , CM000681.2:g.11128080_11128087del GRCh38
NC_000019.9:g.11238756_11238763del , CM000681.1:g.11238756_11238763del GRCh37
NC_000019.8:g.11099756_11099763del NCBI36
NG_009060.1:g.43700_43707del , LRG_274:g.43700_43707del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2642_2647+2del
ENST00000559340.2:c.*453_*458+2del
ENST00000560467.2:c.2264_2269+2del
ENST00000558518.6:c.2384_2389+2del
ENST00000252444.9:c.2638_2643+2del
ENST00000455727.6:c.1880_1885+2del
ENST00000535915.5:c.2261_2266+2del
ENST00000545707.5:c.1850_1855+2del
ENST00000557933.5:c.2384_2389+2del
ENST00000558013.5:c.2384_2389+2del
ENST00000558518.5:c.2384_2389+2del
ENST00000560628.1:n.108+426_108+433del
NM_000527.4:c.2384_2389+2del , LRG_274t1:c.2384_2389+2del
NM_001195798.1:c.2384_2389+2del
NM_001195799.1:c.2261_2266+2del
NM_001195800.1:c.1880_1885+2del
NM_001195803.1:c.1850_1855+2del
XM_011528010.1:c.2312-1433_2312-1426del XP_011526312.1:n.2312-1433_2312-1426del
XM_011528011.1:c.2003_2008+2del
XR_244074.2:n.2394_2399+2del
XM_011528010.2:c.2312-1433_2312-1426del XP_011526312.1:n.2312-1433_2312-1426del
XR_001753685.2:n.2718_2723+2del
XR_001753686.2:n.2361_2366+2del
NM_000527.5:c.2384_2389+2del
NM_001195798.2:c.2384_2389+2del
NM_001195799.2:c.2261_2266+2del
NM_001195800.2:c.1880_1885+2del
NM_001195803.2:c.1850_1855+2del