Canonical Allele Identifier: CA913188974
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 629952
dbSNP Id: rs1568591929

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102717_11102719del , CM000681.2:g.11102717_11102719del GRCh38
NC_000019.9:g.11213393_11213395del , CM000681.1:g.11213393_11213395del GRCh37
NC_000019.8:g.11074393_11074395del NCBI36
NG_009060.1:g.18337_18339del , LRG_274:g.18337_18339del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.502_504del ENSP00000252444.6:p.Cys168del
ENST00000559340.2:c.244_246del ENSP00000453696.2:p.Cys82del
ENST00000560467.2:c.244_246del ENSP00000453513.2:p.Cys82del
ENST00000558518.6:c.244_246del MANE Select ENSP00000454071.1:p.Cys82del
ENST00000252444.9:c.498_500del
ENST00000455727.6:c.244_246del ENSP00000397829.2:p.Cys82del
ENST00000535915.5:c.190+2372_190+2374del ENSP00000440520.1:n.190+2372_190+2374del
ENST00000545707.5:c.244_246del ENSP00000437639.1:p.Cys82del
ENST00000557933.5:c.244_246del ENSP00000453557.1:p.Cys82del
ENST00000557958.1:n.330_332del
ENST00000558013.5:c.244_246del ENSP00000453346.1:p.Cys82del
ENST00000558518.5:c.244_246del ENSP00000454071.1:p.Cys82del
NM_000527.4:c.244_246del , LRG_274t1:c.244_246del NP_000518.1:p.Cys82del
NM_001195798.1:c.244_246del NP_001182727.1:p.Cys82del
NM_001195799.1:c.190+2372_190+2374del NP_001182728.1:n.190+2372_190+2374del
NM_001195800.1:c.244_246del NP_001182729.1:p.Cys82del
NM_001195803.1:c.244_246del NP_001182732.1:p.Cys82del
XM_011528010.1:c.244_246del XP_011526312.1:p.Cys82del
XM_011528011.1:c.244_246del XP_011526313.1:p.Cys82del
XR_244074.2:n.394_396del
XM_011528010.2:c.244_246del XP_011526312.1:p.Cys82del
XR_001753685.2:n.361_363del
XR_001753686.2:n.361_363del
NM_000527.5:c.244_246del MANE Select NP_000518.1:p.Cys82del
NM_001195798.2:c.244_246del NP_001182727.1:p.Cys82del
NM_001195799.2:c.190+2372_190+2374del NP_001182728.1:n.190+2372_190+2374del
NM_001195800.2:c.244_246del NP_001182729.1:p.Cys82del
NM_001195803.2:c.244_246del NP_001182732.1:p.Cys82del