Canonical Allele Identifier: CA2695223204
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105426del , CM000681.2:g.11105426del GRCh38
NC_000019.9:g.11216102del , CM000681.1:g.11216102del GRCh37
NC_000019.8:g.11077102del NCBI36
NG_009060.1:g.21046del , LRG_274:g.21046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.778del ENSP00000252444.6:p.Glu260LysfsTer?
ENST00000559340.2:c.520del ENSP00000453696.2:p.Glu174LysfsTer?
ENST00000560467.2:c.520del ENSP00000453513.2:p.Glu174LysfsTer?
ENST00000558518.6:c.520del MANE Select ENSP00000454071.1:p.Glu174LysfsTer?
ENST00000252444.9:c.774del
ENST00000455727.6:c.314-1966del ENSP00000397829.2:n.314-1966del
ENST00000535915.5:c.397del ENSP00000440520.1:p.Glu133LysfsTer?
ENST00000545707.5:c.314-1139del ENSP00000437639.1:n.314-1139del
ENST00000557933.5:c.520del ENSP00000453557.1:p.Glu174LysfsTer?
ENST00000558013.5:c.520del ENSP00000453346.1:p.Glu174LysfsTer?
ENST00000558518.5:c.520del ENSP00000454071.1:p.Glu174LysfsTer?
ENST00000560467.1:c.120del
NM_000527.4:c.520del , LRG_274t1:c.520del NP_000518.1:p.Glu174LysfsTer?
NM_001195798.1:c.520del NP_001182727.1:p.Glu174LysfsTer?
NM_001195799.1:c.397del NP_001182728.1:p.Glu133LysfsTer?
NM_001195800.1:c.314-1966del NP_001182729.1:n.314-1966del
NM_001195803.1:c.314-1139del NP_001182732.1:n.314-1139del
XM_011528010.1:c.520del XP_011526312.1:p.Glu174LysfsTer?
XM_011528011.1:c.314-1139del XP_011526313.1:n.314-1139del
XR_244074.2:n.670del
XM_011528010.2:c.520del XP_011526312.1:p.Glu174LysfsTer?
XR_001753685.2:n.637del
XR_001753686.2:n.637del
NM_000527.5:c.520del MANE Select NP_000518.1:p.Glu174LysfsTer?
NM_001195798.2:c.520del NP_001182727.1:p.Glu174LysfsTer?
NM_001195799.2:c.397del NP_001182728.1:p.Glu133LysfsTer?
NM_001195800.2:c.314-1966del NP_001182729.1:n.314-1966del
NM_001195803.2:c.314-1139del NP_001182732.1:n.314-1139del