Canonical Allele Identifier: CA645372641
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430799
ClinVar RCV Id: RCV000495867
dbSNP Id: rs1131692224

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128019_11128048del , CM000681.2:g.11128019_11128048del GRCh38
NC_000019.9:g.11238695_11238724del , CM000681.1:g.11238695_11238724del GRCh37
NC_000019.8:g.11099695_11099724del NCBI36
NG_009060.1:g.43639_43668del , LRG_274:g.43639_43668del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2581_2610del ENSP00000252444.6:p.Val861_Pro870del
ENST00000559340.2:c.*392_*421del ENSP00000453696.2:n.*392_*421del
ENST00000560467.2:c.2203_2232del ENSP00000453513.2:p.Val735_Pro744del
ENST00000558518.6:c.2323_2352del MANE Select ENSP00000454071.1:p.Val775_Pro784del
ENST00000252444.9:c.2577_2606del
ENST00000455727.6:c.1819_1848del ENSP00000397829.2:p.Val607_Pro616del
ENST00000535915.5:c.2200_2229del ENSP00000440520.1:p.Val734_Pro743del
ENST00000545707.5:c.1789_1818del ENSP00000437639.1:p.Val597_Pro606del
ENST00000557933.5:c.2323_2352del ENSP00000453557.1:p.Val775_Pro784del
ENST00000558013.5:c.2323_2352del ENSP00000453346.1:p.Val775_Pro784del
ENST00000558518.5:c.2323_2352del ENSP00000454071.1:p.Val775_Pro784del
ENST00000560628.1:n.108+365_108+394del
NM_000527.4:c.2323_2352del , LRG_274t1:c.2323_2352del NP_000518.1:p.Val775_Pro784del
NM_001195798.1:c.2323_2352del NP_001182727.1:p.Val775_Pro784del
NM_001195799.1:c.2200_2229del NP_001182728.1:p.Val734_Pro743del
NM_001195800.1:c.1819_1848del NP_001182729.1:p.Val607_Pro616del
NM_001195803.1:c.1789_1818del NP_001182732.1:p.Val597_Pro606del
XM_011528010.1:c.2312-1494_2312-1465del XP_011526312.1:n.2312-1494_2312-1465del
XM_011528011.1:c.1942_1971del XP_011526313.1:p.Val648_Pro657del
XR_244074.2:n.2333_2362del
XM_011528010.2:c.2312-1494_2312-1465del XP_011526312.1:n.2312-1494_2312-1465del
XR_001753685.2:n.2657_2686del
XR_001753686.2:n.2300_2329del
NM_000527.5:c.2323_2352del MANE Select NP_000518.1:p.Val775_Pro784del
NM_001195798.2:c.2323_2352del NP_001182727.1:p.Val775_Pro784del
NM_001195799.2:c.2200_2229del NP_001182728.1:p.Val734_Pro743del
NM_001195800.2:c.1819_1848del NP_001182729.1:p.Val607_Pro616del
NM_001195803.2:c.1789_1818del NP_001182732.1:p.Val597_Pro606del