Canonical Allele Identifier: CA1139666265
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 951687
ClinVar RCV Id: RCV001223659
dbSNP Id: rs2077361365

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110686_11110697del , CM000681.2:g.11110686_11110697del GRCh38
NC_000019.9:g.11221362_11221373del , CM000681.1:g.11221362_11221373del GRCh37
NC_000019.8:g.11082362_11082373del NCBI36
NG_009060.1:g.26306_26317del , LRG_274:g.26306_26317del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1233_1244del ENSP00000252444.6:p.Ser412_Cys415del
ENST00000559340.2:c.975_986del ENSP00000453696.2:p.Ser326_Cys329del
ENST00000560467.2:c.941-828_941-817del ENSP00000453513.2:n.941-828_941-817del
ENST00000558518.6:c.975_986del MANE Select ENSP00000454071.1:p.Ser326_Cys329del
ENST00000252444.9:c.1229_1240del
ENST00000455727.6:c.471_482del ENSP00000397829.2:p.Ser158_Cys161del
ENST00000535915.5:c.852_863del ENSP00000440520.1:p.Ser285_Cys288del
ENST00000545707.5:c.594_605del ENSP00000437639.1:p.Ser199_Cys202del
ENST00000557933.5:c.975_986del ENSP00000453557.1:p.Ser326_Cys329del
ENST00000558013.5:c.975_986del ENSP00000453346.1:p.Ser326_Cys329del
ENST00000558518.5:c.975_986del ENSP00000454071.1:p.Ser326_Cys329del
ENST00000560467.1:c.541-828_541-817del
NM_000527.4:c.975_986del , LRG_274t1:c.975_986del NP_000518.1:p.Ser326_Cys329del
NM_001195798.1:c.975_986del NP_001182727.1:p.Ser326_Cys329del
NM_001195799.1:c.852_863del NP_001182728.1:p.Ser285_Cys288del
NM_001195800.1:c.471_482del NP_001182729.1:p.Ser158_Cys161del
NM_001195803.1:c.594_605del NP_001182732.1:p.Ser199_Cys202del
XM_011528010.1:c.975_986del XP_011526312.1:p.Ser326_Cys329del
XM_011528011.1:c.594_605del XP_011526313.1:p.Ser199_Cys202del
XR_244074.2:n.1125_1136del
XM_011528010.2:c.975_986del XP_011526312.1:p.Ser326_Cys329del
XR_001753685.2:n.1092_1103del
XR_001753686.2:n.1092_1103del
NM_000527.5:c.975_986del MANE Select NP_000518.1:p.Ser326_Cys329del
NM_001195798.2:c.975_986del NP_001182727.1:p.Ser326_Cys329del
NM_001195799.2:c.852_863del NP_001182728.1:p.Ser285_Cys288del
NM_001195800.2:c.471_482del NP_001182729.1:p.Ser158_Cys161del
NM_001195803.2:c.594_605del NP_001182732.1:p.Ser199_Cys202del