Canonical Allele Identifier: CA645294118
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 426401
ClinVar RCV Id: RCV000489998
dbSNP Id: rs1085307605

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105366del , CM000681.2:g.11105366del GRCh38
NC_000019.9:g.11216042del , CM000681.1:g.11216042del GRCh37
NC_000019.8:g.11077042del NCBI36
NG_009060.1:g.20986del , LRG_274:g.20986del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.718del ENSP00000252444.6:p.Gln240SerfsTer?
ENST00000559340.2:c.460del ENSP00000453696.2:p.Gln154SerfsTer?
ENST00000560467.2:c.460del ENSP00000453513.2:p.Gln154SerfsTer?
ENST00000558518.6:c.460del MANE Select ENSP00000454071.1:p.Gln154SerfsTer?
ENST00000252444.9:c.714del
ENST00000455727.6:c.314-2026del ENSP00000397829.2:n.314-2026del
ENST00000535915.5:c.337del ENSP00000440520.1:p.Gln113SerfsTer?
ENST00000545707.5:c.314-1199del ENSP00000437639.1:n.314-1199del
ENST00000557933.5:c.460del ENSP00000453557.1:p.Gln154SerfsTer?
ENST00000558013.5:c.460del ENSP00000453346.1:p.Gln154SerfsTer?
ENST00000558518.5:c.460del ENSP00000454071.1:p.Gln154SerfsTer?
ENST00000560467.1:c.60del
NM_000527.4:c.460del , LRG_274t1:c.460del NP_000518.1:p.Gln154SerfsTer?
NM_001195798.1:c.460del NP_001182727.1:p.Gln154SerfsTer?
NM_001195799.1:c.337del NP_001182728.1:p.Gln113SerfsTer?
NM_001195800.1:c.314-2026del NP_001182729.1:n.314-2026del
NM_001195803.1:c.314-1199del NP_001182732.1:n.314-1199del
XM_011528010.1:c.460del XP_011526312.1:p.Gln154SerfsTer?
XM_011528011.1:c.314-1199del XP_011526313.1:n.314-1199del
XR_244074.2:n.610del
XM_011528010.2:c.460del XP_011526312.1:p.Gln154SerfsTer?
XR_001753685.2:n.577del
XR_001753686.2:n.577del
NM_000527.5:c.460del MANE Select NP_000518.1:p.Gln154SerfsTer?
NM_001195798.2:c.460del NP_001182727.1:p.Gln154SerfsTer?
NM_001195799.2:c.337del NP_001182728.1:p.Gln113SerfsTer?
NM_001195800.2:c.314-2026del NP_001182729.1:n.314-2026del
NM_001195803.2:c.314-1199del NP_001182732.1:n.314-1199del