Canonical Allele Identifier: CA16602350
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375837
dbSNP Id: rs1057519687

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123328_11123335del , CM000681.2:g.11123328_11123335del GRCh38
NC_000019.9:g.11234004_11234011del , CM000681.1:g.11234004_11234011del GRCh37
NC_000019.8:g.11095004_11095011del NCBI36
NG_009060.1:g.38948_38955del , LRG_274:g.38948_38955del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2553_2560del ENSP00000252444.6:p.Thr852SerfsTer13
ENST00000559340.2:c.*364_*371del ENSP00000453696.2:n.*364_*371del
ENST00000560467.2:c.2175_2182del ENSP00000453513.2:p.Thr726SerfsTer13
ENST00000558518.6:c.2295_2302del MANE Select ENSP00000454071.1:p.Thr766SerfsTer13
ENST00000252444.9:c.2549_2556del
ENST00000455727.6:c.1791_1798del ENSP00000397829.2:p.Thr598SerfsTer13
ENST00000535915.5:c.2172_2179del ENSP00000440520.1:p.Thr725SerfsTer13
ENST00000545707.5:c.1761_1768del ENSP00000437639.1:p.Thr588SerfsTer13
ENST00000557933.5:c.2295_2302del ENSP00000453557.1:p.Thr766SerfsTer13
ENST00000558013.5:c.2295_2302del ENSP00000453346.1:p.Thr766SerfsTer13
ENST00000558518.5:c.2295_2302del ENSP00000454071.1:p.Thr766SerfsTer13
NM_000527.4:c.2295_2302del , LRG_274t1:c.2295_2302del NP_000518.1:p.Thr766SerfsTer13
NM_001195798.1:c.2295_2302del NP_001182727.1:p.Thr766SerfsTer13
NM_001195799.1:c.2172_2179del NP_001182728.1:p.Thr725SerfsTer13
NM_001195800.1:c.1791_1798del NP_001182729.1:p.Thr598SerfsTer13
NM_001195803.1:c.1761_1768del NP_001182732.1:p.Thr588SerfsTer13
XM_011528010.1:c.2295_2302del XP_011526312.1:p.Thr766SerfsTer22
XM_011528011.1:c.1914_1921del XP_011526313.1:p.Thr639SerfsTer13
XR_244074.2:n.2305_2312del
XM_011528010.2:c.2295_2302del XP_011526312.1:p.Thr766SerfsTer22
XR_001753685.2:n.2629_2636del
XR_001753686.2:n.2272_2279del
NM_000527.5:c.2295_2302del MANE Select NP_000518.1:p.Thr766SerfsTer13
NM_001195798.2:c.2295_2302del NP_001182727.1:p.Thr766SerfsTer13
NM_001195799.2:c.2172_2179del NP_001182728.1:p.Thr725SerfsTer13
NM_001195800.2:c.1791_1798del NP_001182729.1:p.Thr598SerfsTer13
NM_001195803.2:c.1761_1768del NP_001182732.1:p.Thr588SerfsTer13