Canonical Allele Identifier: CA2695223198
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105345_11105357del , CM000681.2:g.11105345_11105357del GRCh38
NC_000019.9:g.11216021_11216033del , CM000681.1:g.11216021_11216033del GRCh37
NC_000019.8:g.11077021_11077033del NCBI36
NG_009060.1:g.20965_20977del , LRG_274:g.20965_20977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.697_709del ENSP00000252444.6:p.Thr233ProfsTer?
ENST00000559340.2:c.439_451del ENSP00000453696.2:p.Thr147ProfsTer?
ENST00000560467.2:c.439_451del ENSP00000453513.2:p.Thr147ProfsTer?
ENST00000558518.6:c.439_451del MANE Select ENSP00000454071.1:p.Thr147ProfsTer?
ENST00000252444.9:c.693_705del
ENST00000455727.6:c.314-2047_314-2035del ENSP00000397829.2:n.314-2047_314-2035del
ENST00000535915.5:c.316_328del ENSP00000440520.1:p.Thr106ProfsTer?
ENST00000545707.5:c.314-1220_314-1208del ENSP00000437639.1:n.314-1220_314-1208del
ENST00000557933.5:c.439_451del ENSP00000453557.1:p.Thr147ProfsTer?
ENST00000558013.5:c.439_451del ENSP00000453346.1:p.Thr147ProfsTer?
ENST00000558518.5:c.439_451del ENSP00000454071.1:p.Thr147ProfsTer?
ENST00000560467.1:c.39_51del
NM_000527.4:c.439_451del , LRG_274t1:c.439_451del NP_000518.1:p.Thr147ProfsTer?
NM_001195798.1:c.439_451del NP_001182727.1:p.Thr147ProfsTer?
NM_001195799.1:c.316_328del NP_001182728.1:p.Thr106ProfsTer?
NM_001195800.1:c.314-2047_314-2035del NP_001182729.1:n.314-2047_314-2035del
NM_001195803.1:c.314-1220_314-1208del NP_001182732.1:n.314-1220_314-1208del
XM_011528010.1:c.439_451del XP_011526312.1:p.Thr147ProfsTer?
XM_011528011.1:c.314-1220_314-1208del XP_011526313.1:n.314-1220_314-1208del
XR_244074.2:n.589_601del
XM_011528010.2:c.439_451del XP_011526312.1:p.Thr147ProfsTer?
XR_001753685.2:n.556_568del
XR_001753686.2:n.556_568del
NM_000527.5:c.439_451del MANE Select NP_000518.1:p.Thr147ProfsTer?
NM_001195798.2:c.439_451del NP_001182727.1:p.Thr147ProfsTer?
NM_001195799.2:c.316_328del NP_001182728.1:p.Thr106ProfsTer?
NM_001195800.2:c.314-2047_314-2035del NP_001182729.1:n.314-2047_314-2035del
NM_001195803.2:c.314-1220_314-1208del NP_001182732.1:n.314-1220_314-1208del