Canonical Allele Identifier: CA2582476548
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11129755-GCTTCCCCAGCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129758_11129768del , CM000681.2:g.11129758_11129768del GRCh38
NC_000019.9:g.11240434_11240444del , CM000681.1:g.11240434_11240444del GRCh37
NC_000019.8:g.11101434_11101444del NCBI36
NG_009060.1:g.45378_45388del , LRG_274:g.45378_45388del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2805+88_2805+98del ENSP00000252444.6:n.2805+88_2805+98del
ENST00000559340.2:c.*616+88_*616+98del ENSP00000453696.2:n.*616+88_*616+98del
ENST00000560467.2:c.2427+88_2427+98del ENSP00000453513.2:n.2427+88_2427+98del
ENST00000558518.6:c.2547+88_2547+98del MANE Select ENSP00000454071.1:n.2547+88_2547+98del
ENST00000252444.9:c.2801+88_2801+98del
ENST00000455727.6:c.2043+88_2043+98del ENSP00000397829.2:n.2043+88_2043+98del
ENST00000535915.5:c.2424+88_2424+98del ENSP00000440520.1:n.2424+88_2424+98del
ENST00000545707.5:c.2013+88_2013+98del ENSP00000437639.1:n.2013+88_2013+98del
ENST00000557933.5:c.2609+88_2609+98del ENSP00000453557.1:n.2609+88_2609+98del
ENST00000558013.5:c.2547+88_2547+98del ENSP00000453346.1:n.2547+88_2547+98del
ENST00000558518.5:c.2547+88_2547+98del ENSP00000454071.1:n.2547+88_2547+98del
ENST00000560628.1:n.108+2104_108+2114del
NM_000527.4:c.2547+88_2547+98del , LRG_274t1:c.2547+88_2547+98del NP_000518.1:n.2547+88_2547+98del
NM_001195798.1:c.2547+88_2547+98del NP_001182727.1:n.2547+88_2547+98del
NM_001195799.1:c.2424+88_2424+98del NP_001182728.1:n.2424+88_2424+98del
NM_001195800.1:c.2043+88_2043+98del NP_001182729.1:n.2043+88_2043+98del
NM_001195803.1:c.2013+88_2013+98del NP_001182732.1:n.2013+88_2013+98del
XM_011528010.1:c.2469+88_2469+98del XP_011526312.1:n.2469+88_2469+98del
XM_011528011.1:c.2166+88_2166+98del XP_011526313.1:n.2166+88_2166+98del
XM_011528010.2:c.2469+88_2469+98del XP_011526312.1:n.2469+88_2469+98del
XR_001753685.2:n.2881+88_2881+98del
XR_001753686.2:n.2524+88_2524+98del
NM_000527.5:c.2547+88_2547+98del MANE Select NP_000518.1:n.2547+88_2547+98del
NM_001195798.2:c.2547+88_2547+98del NP_001182727.1:n.2547+88_2547+98del
NM_001195799.2:c.2424+88_2424+98del NP_001182728.1:n.2424+88_2424+98del
NM_001195800.2:c.2043+88_2043+98del NP_001182729.1:n.2043+88_2043+98del
NM_001195803.2:c.2013+88_2013+98del NP_001182732.1:n.2013+88_2013+98del
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