Canonical Allele Identifier: CA2580096283
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1789858
ClinVar RCV Id: RCV002457688
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128036del , CM000681.2:g.11128036del GRCh38
NC_000019.9:g.11238712del , CM000681.1:g.11238712del GRCh37
NC_000019.8:g.11099712del NCBI36
NG_009060.1:g.43656del , LRG_274:g.43656del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2598del ENSP00000252444.6:p.Asn866LysfsTer8
ENST00000559340.2:c.*409del ENSP00000453696.2:n.*409del
ENST00000560467.2:c.2220del ENSP00000453513.2:p.Asn740LysfsTer8
ENST00000558518.6:c.2340del MANE Select ENSP00000454071.1:p.Asn780LysfsTer8
ENST00000252444.9:c.2594del
ENST00000455727.6:c.1836del ENSP00000397829.2:p.Asn612LysfsTer8
ENST00000535915.5:c.2217del ENSP00000440520.1:p.Asn739LysfsTer8
ENST00000545707.5:c.1806del ENSP00000437639.1:p.Asn602LysfsTer8
ENST00000557933.5:c.2340del ENSP00000453557.1:p.Asn780LysfsTer8
ENST00000558013.5:c.2340del ENSP00000453346.1:p.Asn780LysfsTer8
ENST00000558518.5:c.2340del ENSP00000454071.1:p.Asn780LysfsTer8
ENST00000560628.1:n.108+382del
NM_000527.4:c.2340del , LRG_274t1:c.2340del NP_000518.1:p.Asn780LysfsTer8
NM_001195798.1:c.2340del NP_001182727.1:p.Asn780LysfsTer8
NM_001195799.1:c.2217del NP_001182728.1:p.Asn739LysfsTer8
NM_001195800.1:c.1836del NP_001182729.1:p.Asn612LysfsTer8
NM_001195803.1:c.1806del NP_001182732.1:p.Asn602LysfsTer8
XM_011528010.1:c.2312-1477del XP_011526312.1:n.2312-1477del
XM_011528011.1:c.1959del XP_011526313.1:p.Asn653LysfsTer8
XR_244074.2:n.2350del
XM_011528010.2:c.2312-1477del XP_011526312.1:n.2312-1477del
XR_001753685.2:n.2674del
XR_001753686.2:n.2317del
NM_000527.5:c.2340del MANE Select NP_000518.1:p.Asn780LysfsTer8
NM_001195798.2:c.2340del NP_001182727.1:p.Asn780LysfsTer8
NM_001195799.2:c.2217del NP_001182728.1:p.Asn739LysfsTer8
NM_001195800.2:c.1836del NP_001182729.1:p.Asn612LysfsTer8
NM_001195803.2:c.1806del NP_001182732.1:p.Asn602LysfsTer8
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