Canonical Allele Identifier: CA2582476340
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11128207-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128210del , CM000681.2:g.11128210del GRCh38
NC_000019.9:g.11238886del , CM000681.1:g.11238886del GRCh37
NC_000019.8:g.11099886del NCBI36
NG_009060.1:g.43830del , LRG_274:g.43830del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2647+125del ENSP00000252444.6:n.2647+125del
ENST00000559340.2:c.*458+125del ENSP00000453696.2:n.*458+125del
ENST00000560467.2:c.2269+125del ENSP00000453513.2:n.2269+125del
ENST00000558518.6:c.2389+125del MANE Select ENSP00000454071.1:n.2389+125del
ENST00000252444.9:c.2643+125del
ENST00000455727.6:c.1885+125del ENSP00000397829.2:n.1885+125del
ENST00000535915.5:c.2266+125del ENSP00000440520.1:n.2266+125del
ENST00000545707.5:c.1855+125del ENSP00000437639.1:n.1855+125del
ENST00000557933.5:c.2389+125del ENSP00000453557.1:n.2389+125del
ENST00000558013.5:c.2389+125del ENSP00000453346.1:n.2389+125del
ENST00000558518.5:c.2389+125del ENSP00000454071.1:n.2389+125del
ENST00000560628.1:n.108+556del
NM_000527.4:c.2389+125del , LRG_274t1:c.2389+125del NP_000518.1:n.2389+125del
NM_001195798.1:c.2389+125del NP_001182727.1:n.2389+125del
NM_001195799.1:c.2266+125del NP_001182728.1:n.2266+125del
NM_001195800.1:c.1885+125del NP_001182729.1:n.1885+125del
NM_001195803.1:c.1855+125del NP_001182732.1:n.1855+125del
XM_011528010.1:c.2312-1303del XP_011526312.1:n.2312-1303del
XM_011528011.1:c.2008+125del XP_011526313.1:n.2008+125del
XR_244074.2:n.2399+125del
XM_011528010.2:c.2312-1303del XP_011526312.1:n.2312-1303del
XR_001753685.2:n.2723+125del
XR_001753686.2:n.2366+125del
NM_000527.5:c.2389+125del MANE Select NP_000518.1:n.2389+125del
NM_001195798.2:c.2389+125del NP_001182727.1:n.2389+125del
NM_001195799.2:c.2266+125del NP_001182728.1:n.2266+125del
NM_001195800.2:c.1885+125del NP_001182729.1:n.1885+125del
NM_001195803.2:c.1855+125del NP_001182732.1:n.1855+125del
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