Canonical Allele Identifier: CA2813590166
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129408dup , CM000681.2:g.11129408dup GRCh38
NC_000019.9:g.11240084dup , CM000681.1:g.11240084dup GRCh37
NC_000019.8:g.11101084dup NCBI36
NG_009060.1:g.45028dup , LRG_274:g.45028dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2648-105dup ENSP00000252444.6:n.2648-105dup
ENST00000559340.2:c.*459-105dup ENSP00000453696.2:n.*459-105dup
ENST00000560467.2:c.2270-105dup ENSP00000453513.2:n.2270-105dup
ENST00000558518.6:c.2390-105dup MANE Select ENSP00000454071.1:n.2390-105dup
ENST00000252444.9:c.2644-105dup
ENST00000455727.6:c.1886-105dup ENSP00000397829.2:n.1886-105dup
ENST00000535915.5:c.2267-105dup ENSP00000440520.1:n.2267-105dup
ENST00000545707.5:c.1856-105dup ENSP00000437639.1:n.1856-105dup
ENST00000557933.5:c.2390-43dup ENSP00000453557.1:n.2390-43dup
ENST00000558013.5:c.2390-105dup ENSP00000453346.1:n.2390-105dup
ENST00000558518.5:c.2390-105dup ENSP00000454071.1:n.2390-105dup
ENST00000560628.1:n.108+1754dup
NM_000527.4:c.2390-105dup , LRG_274t1:c.2390-105dup NP_000518.1:n.2390-105dup
NM_001195798.1:c.2390-105dup NP_001182727.1:n.2390-105dup
NM_001195799.1:c.2267-105dup NP_001182728.1:n.2267-105dup
NM_001195800.1:c.1886-105dup NP_001182729.1:n.1886-105dup
NM_001195803.1:c.1856-105dup NP_001182732.1:n.1856-105dup
XM_011528010.1:c.2312-105dup XP_011526312.1:n.2312-105dup
XM_011528011.1:c.2009-105dup XP_011526313.1:n.2009-105dup
XR_244074.2:n.2400-105dup
XM_011528010.2:c.2312-105dup XP_011526312.1:n.2312-105dup
XR_001753685.2:n.2724-105dup
XR_001753686.2:n.2367-105dup
NM_000527.5:c.2390-105dup MANE Select NP_000518.1:n.2390-105dup
NM_001195798.2:c.2390-105dup NP_001182727.1:n.2390-105dup
NM_001195799.2:c.2267-105dup NP_001182728.1:n.2267-105dup
NM_001195800.2:c.1886-105dup NP_001182729.1:n.1886-105dup
NM_001195803.2:c.1856-105dup NP_001182732.1:n.1856-105dup