Canonical Allele Identifier: CA2580096497
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1755426
ClinVar RCV Id: RCV002369394
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105584del , CM000681.2:g.11105584del GRCh38
NC_000019.9:g.11216260del , CM000681.1:g.11216260del GRCh37
NC_000019.8:g.11077260del NCBI36
NG_009060.1:g.21204del , LRG_274:g.21204del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.936del ENSP00000252444.6:p.Asp313ThrfsTer?
ENST00000559340.2:c.678del ENSP00000453696.2:p.Asp227ThrfsTer?
ENST00000560467.2:c.678del ENSP00000453513.2:p.Asp227ThrfsTer?
ENST00000558518.6:c.678del MANE Select ENSP00000454071.1:p.Asp227ThrfsTer?
ENST00000252444.9:c.932del
ENST00000455727.6:c.314-1808del ENSP00000397829.2:n.314-1808del
ENST00000535915.5:c.555del ENSP00000440520.1:p.Asp186ThrfsTer?
ENST00000545707.5:c.314-981del ENSP00000437639.1:n.314-981del
ENST00000557933.5:c.678del ENSP00000453557.1:p.Asp227ThrfsTer?
ENST00000558013.5:c.678del ENSP00000453346.1:p.Asp227ThrfsTer?
ENST00000558518.5:c.678del ENSP00000454071.1:p.Asp227ThrfsTer?
ENST00000560467.1:c.278del
NM_000527.4:c.678del , LRG_274t1:c.678del NP_000518.1:p.Asp227ThrfsTer?
NM_001195798.1:c.678del NP_001182727.1:p.Asp227ThrfsTer?
NM_001195799.1:c.555del NP_001182728.1:p.Asp186ThrfsTer?
NM_001195800.1:c.314-1808del NP_001182729.1:n.314-1808del
NM_001195803.1:c.314-981del NP_001182732.1:n.314-981del
XM_011528010.1:c.678del XP_011526312.1:p.Asp227ThrfsTer?
XM_011528011.1:c.314-981del XP_011526313.1:n.314-981del
XR_244074.2:n.828del
XM_011528010.2:c.678del XP_011526312.1:p.Asp227ThrfsTer?
XR_001753685.2:n.795del
XR_001753686.2:n.795del
NM_000527.5:c.678del MANE Select NP_000518.1:p.Asp227ThrfsTer?
NM_001195798.2:c.678del NP_001182727.1:p.Asp227ThrfsTer?
NM_001195799.2:c.555del NP_001182728.1:p.Asp186ThrfsTer?
NM_001195800.2:c.314-1808del NP_001182729.1:n.314-1808del
NM_001195803.2:c.314-981del NP_001182732.1:n.314-981del
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