Canonical Allele Identifier: CA2582475677
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11127512-GGT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11127516_11127517del , CM000681.2:g.11127516_11127517del GRCh38
NC_000019.9:g.11238192_11238193del , CM000681.1:g.11238192_11238193del GRCh37
NC_000019.8:g.11099192_11099193del NCBI36
NG_009060.1:g.43136_43137del , LRG_274:g.43136_43137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2570-492_2570-491del ENSP00000252444.6:n.2570-492_2570-491del
ENST00000559340.2:c.*381-492_*381-491del ENSP00000453696.2:n.*381-492_*381-491del
ENST00000560467.2:c.2192-492_2192-491del ENSP00000453513.2:n.2192-492_2192-491del
ENST00000558518.6:c.2312-492_2312-491del MANE Select ENSP00000454071.1:n.2312-492_2312-491del
ENST00000252444.9:c.2566-492_2566-491del
ENST00000455727.6:c.1808-492_1808-491del ENSP00000397829.2:n.1808-492_1808-491del
ENST00000535915.5:c.2189-492_2189-491del ENSP00000440520.1:n.2189-492_2189-491del
ENST00000545707.5:c.1778-492_1778-491del ENSP00000437639.1:n.1778-492_1778-491del
ENST00000557933.5:c.2312-492_2312-491del ENSP00000453557.1:n.2312-492_2312-491del
ENST00000558013.5:c.2312-492_2312-491del ENSP00000453346.1:n.2312-492_2312-491del
ENST00000558518.5:c.2312-492_2312-491del ENSP00000454071.1:n.2312-492_2312-491del
NM_000527.4:c.2312-492_2312-491del , LRG_274t1:c.2312-492_2312-491del NP_000518.1:n.2312-492_2312-491del
NM_001195798.1:c.2312-492_2312-491del NP_001182727.1:n.2312-492_2312-491del
NM_001195799.1:c.2189-492_2189-491del NP_001182728.1:n.2189-492_2189-491del
NM_001195800.1:c.1808-492_1808-491del NP_001182729.1:n.1808-492_1808-491del
NM_001195803.1:c.1778-492_1778-491del NP_001182732.1:n.1778-492_1778-491del
XM_011528010.1:c.2312-1997_2312-1996del XP_011526312.1:n.2312-1997_2312-1996del
XM_011528011.1:c.1931-492_1931-491del XP_011526313.1:n.1931-492_1931-491del
XR_244074.2:n.2322-492_2322-491del
XM_011528010.2:c.2312-1997_2312-1996del XP_011526312.1:n.2312-1997_2312-1996del
XR_001753685.2:n.2646-492_2646-491del
XR_001753686.2:n.2289-492_2289-491del
NM_000527.5:c.2312-492_2312-491del MANE Select NP_000518.1:n.2312-492_2312-491del
NM_001195798.2:c.2312-492_2312-491del NP_001182727.1:n.2312-492_2312-491del
NM_001195799.2:c.2189-492_2189-491del NP_001182728.1:n.2189-492_2189-491del
NM_001195800.2:c.1808-492_1808-491del NP_001182729.1:n.1808-492_1808-491del
NM_001195803.2:c.1778-492_1778-491del NP_001182732.1:n.1778-492_1778-491del
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