Canonical Allele Identifier: CA2582474549
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11113459-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113463del , CM000681.2:g.11113463del GRCh38
NC_000019.9:g.11224139del , CM000681.1:g.11224139del GRCh37
NC_000019.8:g.11085139del NCBI36
NG_009060.1:g.29083del , LRG_274:g.29083del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1616+14del ENSP00000252444.6:n.1616+14del
ENST00000559340.2:c.1358+14del ENSP00000453696.2:n.1358+14del
ENST00000560467.2:c.1238+14del ENSP00000453513.2:n.1238+14del
ENST00000558518.6:c.1358+14del MANE Select ENSP00000454071.1:n.1358+14del
ENST00000252444.9:c.1612+14del
ENST00000455727.6:c.854+14del ENSP00000397829.2:n.854+14del
ENST00000535915.5:c.1235+14del ENSP00000440520.1:n.1235+14del
ENST00000545707.5:c.977+14del ENSP00000437639.1:n.977+14del
ENST00000557933.5:c.1358+14del ENSP00000453557.1:n.1358+14del
ENST00000558013.5:c.1358+14del ENSP00000453346.1:n.1358+14del
ENST00000558518.5:c.1358+14del ENSP00000454071.1:n.1358+14del
ENST00000559340.1:c.79+14del
ENST00000560173.1:n.371del
ENST00000560467.1:c.838+14del
NM_000527.4:c.1358+14del , LRG_274t1:c.1358+14del NP_000518.1:n.1358+14del
NM_001195798.1:c.1358+14del NP_001182727.1:n.1358+14del
NM_001195799.1:c.1235+14del NP_001182728.1:n.1235+14del
NM_001195800.1:c.854+14del NP_001182729.1:n.854+14del
NM_001195803.1:c.977+14del NP_001182732.1:n.977+14del
XM_011528010.1:c.1358+14del XP_011526312.1:n.1358+14del
XM_011528011.1:c.977+14del XP_011526313.1:n.977+14del
XR_244074.2:n.1508+14del
XM_011528010.2:c.1358+14del XP_011526312.1:n.1358+14del
XR_001753685.2:n.1475+14del
XR_001753686.2:n.1475+14del
NM_000527.5:c.1358+14del MANE Select NP_000518.1:n.1358+14del
NM_001195798.2:c.1358+14del NP_001182727.1:n.1358+14del
NM_001195799.2:c.1235+14del NP_001182728.1:n.1235+14del
NM_001195800.2:c.854+14del NP_001182729.1:n.854+14del
NM_001195803.2:c.977+14del NP_001182732.1:n.977+14del
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