Canonical Allele Identifier: CA2582476503
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129463del , CM000681.2:g.11129463del GRCh38
NC_000019.9:g.11240139del , CM000681.1:g.11240139del GRCh37
NC_000019.8:g.11101139del NCBI36
NG_009060.1:g.45083del , LRG_274:g.45083del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2648-50del ENSP00000252444.6:n.2648-50del
ENST00000559340.2:c.*459-50del ENSP00000453696.2:n.*459-50del
ENST00000560467.2:c.2270-50del ENSP00000453513.2:n.2270-50del
ENST00000558518.6:c.2390-50del MANE Select ENSP00000454071.1:n.2390-50del
ENST00000252444.9:c.2644-50del
ENST00000455727.6:c.1886-50del ENSP00000397829.2:n.1886-50del
ENST00000535915.5:c.2267-50del ENSP00000440520.1:n.2267-50del
ENST00000545707.5:c.1856-50del ENSP00000437639.1:n.1856-50del
ENST00000557933.5:c.2402del ENSP00000453557.1:p.Gly801ValfsTer?
ENST00000558013.5:c.2390-50del ENSP00000453346.1:n.2390-50del
ENST00000558518.5:c.2390-50del ENSP00000454071.1:n.2390-50del
ENST00000560628.1:n.108+1809del
NM_000527.4:c.2390-50del , LRG_274t1:c.2390-50del NP_000518.1:n.2390-50del
NM_001195798.1:c.2390-50del NP_001182727.1:n.2390-50del
NM_001195799.1:c.2267-50del NP_001182728.1:n.2267-50del
NM_001195800.1:c.1886-50del NP_001182729.1:n.1886-50del
NM_001195803.1:c.1856-50del NP_001182732.1:n.1856-50del
XM_011528010.1:c.2312-50del XP_011526312.1:n.2312-50del
XM_011528011.1:c.2009-50del XP_011526313.1:n.2009-50del
XR_244074.2:n.2400-50del
XM_011528010.2:c.2312-50del XP_011526312.1:n.2312-50del
XR_001753685.2:n.2724-50del
XR_001753686.2:n.2367-50del
NM_000527.5:c.2390-50del MANE Select NP_000518.1:n.2390-50del
NM_001195798.2:c.2390-50del NP_001182727.1:n.2390-50del
NM_001195799.2:c.2267-50del NP_001182728.1:n.2267-50del
NM_001195800.2:c.1886-50del NP_001182729.1:n.1886-50del
NM_001195803.2:c.1856-50del NP_001182732.1:n.1856-50del