Canonical Allele Identifier: CA2582476262
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11128101-TCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128105_11128106del , CM000681.2:g.11128105_11128106del GRCh38
NC_000019.9:g.11238781_11238782del , CM000681.1:g.11238781_11238782del GRCh37
NC_000019.8:g.11099781_11099782del NCBI36
NG_009060.1:g.43725_43726del , LRG_274:g.43725_43726del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2647+20_2647+21del ENSP00000252444.6:n.2647+20_2647+21del
ENST00000559340.2:c.*458+20_*458+21del ENSP00000453696.2:n.*458+20_*458+21del
ENST00000560467.2:c.2269+20_2269+21del ENSP00000453513.2:n.2269+20_2269+21del
ENST00000558518.6:c.2389+20_2389+21del MANE Select ENSP00000454071.1:n.2389+20_2389+21del
ENST00000252444.9:c.2643+20_2643+21del
ENST00000455727.6:c.1885+20_1885+21del ENSP00000397829.2:n.1885+20_1885+21del
ENST00000535915.5:c.2266+20_2266+21del ENSP00000440520.1:n.2266+20_2266+21del
ENST00000545707.5:c.1855+20_1855+21del ENSP00000437639.1:n.1855+20_1855+21del
ENST00000557933.5:c.2389+20_2389+21del ENSP00000453557.1:n.2389+20_2389+21del
ENST00000558013.5:c.2389+20_2389+21del ENSP00000453346.1:n.2389+20_2389+21del
ENST00000558518.5:c.2389+20_2389+21del ENSP00000454071.1:n.2389+20_2389+21del
ENST00000560628.1:n.108+451_108+452del
NM_000527.4:c.2389+20_2389+21del , LRG_274t1:c.2389+20_2389+21del NP_000518.1:n.2389+20_2389+21del
NM_001195798.1:c.2389+20_2389+21del NP_001182727.1:n.2389+20_2389+21del
NM_001195799.1:c.2266+20_2266+21del NP_001182728.1:n.2266+20_2266+21del
NM_001195800.1:c.1885+20_1885+21del NP_001182729.1:n.1885+20_1885+21del
NM_001195803.1:c.1855+20_1855+21del NP_001182732.1:n.1855+20_1855+21del
XM_011528010.1:c.2312-1408_2312-1407del XP_011526312.1:n.2312-1408_2312-1407del
XM_011528011.1:c.2008+20_2008+21del XP_011526313.1:n.2008+20_2008+21del
XR_244074.2:n.2399+20_2399+21del
XM_011528010.2:c.2312-1408_2312-1407del XP_011526312.1:n.2312-1408_2312-1407del
XR_001753685.2:n.2723+20_2723+21del
XR_001753686.2:n.2366+20_2366+21del
NM_000527.5:c.2389+20_2389+21del MANE Select NP_000518.1:n.2389+20_2389+21del
NM_001195798.2:c.2389+20_2389+21del NP_001182727.1:n.2389+20_2389+21del
NM_001195799.2:c.2266+20_2266+21del NP_001182728.1:n.2266+20_2266+21del
NM_001195800.2:c.1885+20_1885+21del NP_001182729.1:n.1885+20_1885+21del
NM_001195803.2:c.1855+20_1855+21del NP_001182732.1:n.1855+20_1855+21del
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