Canonical Allele Identifier: CA2322780165
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129351_11129352delinsCA , CM000681.2:g.11129351_11129352delinsCA GRCh38
NC_000019.9:g.11240027_11240028delinsCA , CM000681.1:g.11240027_11240028delinsCA GRCh37
NC_000019.8:g.11101027_11101028delinsCA NCBI36
NG_009060.1:g.44971_44972delinsCA , LRG_274:g.44971_44972delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2648-162_2648-161delinsCA ENSP00000252444.6:n.2648-162_2648-161delinsCA
ENST00000559340.2:c.*459-162_*459-161delinsCA ENSP00000453696.2:n.*459-162_*459-161delinsCA
ENST00000560467.2:c.2270-162_2270-161delinsCA ENSP00000453513.2:n.2270-162_2270-161delinsCA
ENST00000558518.6:c.2390-162_2390-161delinsCA MANE Select ENSP00000454071.1:n.2390-162_2390-161delinsCA
ENST00000252444.9:c.2644-162_2644-161delinsCA
ENST00000455727.6:c.1886-162_1886-161delinsCA ENSP00000397829.2:n.1886-162_1886-161delinsCA
ENST00000535915.5:c.2267-162_2267-161delinsCA ENSP00000440520.1:n.2267-162_2267-161delinsCA
ENST00000545707.5:c.1856-162_1856-161delinsCA ENSP00000437639.1:n.1856-162_1856-161delinsCA
ENST00000557933.5:c.2390-100_2390-99delinsCA ENSP00000453557.1:n.2390-100_2390-99delinsCA
ENST00000558013.5:c.2390-162_2390-161delinsCA ENSP00000453346.1:n.2390-162_2390-161delinsCA
ENST00000558518.5:c.2390-162_2390-161delinsCA ENSP00000454071.1:n.2390-162_2390-161delinsCA
ENST00000560628.1:n.108+1697_108+1698delinsCA
NM_000527.4:c.2390-162_2390-161delinsCA , LRG_274t1:c.2390-162_2390-161delinsCA NP_000518.1:n.2390-162_2390-161delinsCA
NM_001195798.1:c.2390-162_2390-161delinsCA NP_001182727.1:n.2390-162_2390-161delinsCA
NM_001195799.1:c.2267-162_2267-161delinsCA NP_001182728.1:n.2267-162_2267-161delinsCA
NM_001195800.1:c.1886-162_1886-161delinsCA NP_001182729.1:n.1886-162_1886-161delinsCA
NM_001195803.1:c.1856-162_1856-161delinsCA NP_001182732.1:n.1856-162_1856-161delinsCA
XM_011528010.1:c.2312-162_2312-161delinsCA XP_011526312.1:n.2312-162_2312-161delinsCA
XM_011528011.1:c.2009-162_2009-161delinsCA XP_011526313.1:n.2009-162_2009-161delinsCA
XR_244074.2:n.2400-162_2400-161delinsCA
XM_011528010.2:c.2312-162_2312-161delinsCA XP_011526312.1:n.2312-162_2312-161delinsCA
XR_001753685.2:n.2724-162_2724-161delinsCA
XR_001753686.2:n.2367-162_2367-161delinsCA
NM_000527.5:c.2390-162_2390-161delinsCA MANE Select NP_000518.1:n.2390-162_2390-161delinsCA
NM_001195798.2:c.2390-162_2390-161delinsCA NP_001182727.1:n.2390-162_2390-161delinsCA
NM_001195799.2:c.2267-162_2267-161delinsCA NP_001182728.1:n.2267-162_2267-161delinsCA
NM_001195800.2:c.1886-162_1886-161delinsCA NP_001182729.1:n.1886-162_1886-161delinsCA
NM_001195803.2:c.1856-162_1856-161delinsCA NP_001182732.1:n.1856-162_1856-161delinsCA