Canonical Allele Identifier: CA2322780223
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs772173177
gnomAD v4: 19-11129474-CGGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129477_11129479del , CM000681.2:g.11129477_11129479del GRCh38
NC_000019.9:g.11240153_11240155del , CM000681.1:g.11240153_11240155del GRCh37
NC_000019.8:g.11101153_11101155del NCBI36
NG_009060.1:g.45097_45099del , LRG_274:g.45097_45099del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2648-36_2648-34del ENSP00000252444.6:n.2648-36_2648-34del
ENST00000559340.2:c.*459-36_*459-34del ENSP00000453696.2:n.*459-36_*459-34del
ENST00000560467.2:c.2270-36_2270-34del ENSP00000453513.2:n.2270-36_2270-34del
ENST00000558518.6:c.2390-36_2390-34del MANE Select ENSP00000454071.1:n.2390-36_2390-34del
ENST00000252444.9:c.2644-36_2644-34del
ENST00000455727.6:c.1886-36_1886-34del ENSP00000397829.2:n.1886-36_1886-34del
ENST00000535915.5:c.2267-36_2267-34del ENSP00000440520.1:n.2267-36_2267-34del
ENST00000545707.5:c.1856-36_1856-34del ENSP00000437639.1:n.1856-36_1856-34del
ENST00000557933.5:c.2416_2418del ENSP00000453557.1:p.Gly806del
ENST00000558013.5:c.2390-36_2390-34del ENSP00000453346.1:n.2390-36_2390-34del
ENST00000558518.5:c.2390-36_2390-34del ENSP00000454071.1:n.2390-36_2390-34del
ENST00000560628.1:n.108+1823_108+1825del
NM_000527.4:c.2390-36_2390-34del , LRG_274t1:c.2390-36_2390-34del NP_000518.1:n.2390-36_2390-34del
NM_001195798.1:c.2390-36_2390-34del NP_001182727.1:n.2390-36_2390-34del
NM_001195799.1:c.2267-36_2267-34del NP_001182728.1:n.2267-36_2267-34del
NM_001195800.1:c.1886-36_1886-34del NP_001182729.1:n.1886-36_1886-34del
NM_001195803.1:c.1856-36_1856-34del NP_001182732.1:n.1856-36_1856-34del
XM_011528010.1:c.2312-36_2312-34del XP_011526312.1:n.2312-36_2312-34del
XM_011528011.1:c.2009-36_2009-34del XP_011526313.1:n.2009-36_2009-34del
XR_244074.2:n.2400-36_2400-34del
XM_011528010.2:c.2312-36_2312-34del XP_011526312.1:n.2312-36_2312-34del
XR_001753685.2:n.2724-36_2724-34del
XR_001753686.2:n.2367-36_2367-34del
NM_000527.5:c.2390-36_2390-34del MANE Select NP_000518.1:n.2390-36_2390-34del
NM_001195798.2:c.2390-36_2390-34del NP_001182727.1:n.2390-36_2390-34del
NM_001195799.2:c.2267-36_2267-34del NP_001182728.1:n.2267-36_2267-34del
NM_001195800.2:c.1886-36_1886-34del NP_001182729.1:n.1886-36_1886-34del
NM_001195803.2:c.1856-36_1856-34del NP_001182732.1:n.1856-36_1856-34del
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