Canonical Allele Identifier: CA2580096468
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1753763
ClinVar RCV Id: RCV002356208

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105554_11105571del , CM000681.2:g.11105554_11105571del GRCh38
NC_000019.9:g.11216230_11216247del , CM000681.1:g.11216230_11216247del GRCh37
NC_000019.8:g.11077230_11077247del NCBI36
NG_009060.1:g.21174_21191del , LRG_274:g.21174_21191del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.906_923del ENSP00000252444.6:p.Asp303_Cys308del
ENST00000559340.2:c.648_665del ENSP00000453696.2:p.Asp217_Cys222del
ENST00000560467.2:c.648_665del ENSP00000453513.2:p.Asp217_Cys222del
ENST00000558518.6:c.648_665del MANE Select ENSP00000454071.1:p.Asp217_Cys222del
ENST00000252444.9:c.902_919del
ENST00000455727.6:c.314-1838_314-1821del ENSP00000397829.2:n.314-1838_314-1821del
ENST00000535915.5:c.525_542del ENSP00000440520.1:p.Asp176_Cys181del
ENST00000545707.5:c.314-1011_314-994del ENSP00000437639.1:n.314-1011_314-994del
ENST00000557933.5:c.648_665del ENSP00000453557.1:p.Asp217_Cys222del
ENST00000558013.5:c.648_665del ENSP00000453346.1:p.Asp217_Cys222del
ENST00000558518.5:c.648_665del ENSP00000454071.1:p.Asp217_Cys222del
ENST00000560467.1:c.248_265del
NM_000527.4:c.648_665del , LRG_274t1:c.648_665del NP_000518.1:p.Asp217_Cys222del
NM_001195798.1:c.648_665del NP_001182727.1:p.Asp217_Cys222del
NM_001195799.1:c.525_542del NP_001182728.1:p.Asp176_Cys181del
NM_001195800.1:c.314-1838_314-1821del NP_001182729.1:n.314-1838_314-1821del
NM_001195803.1:c.314-1011_314-994del NP_001182732.1:n.314-1011_314-994del
XM_011528010.1:c.648_665del XP_011526312.1:p.Asp217_Cys222del
XM_011528011.1:c.314-1011_314-994del XP_011526313.1:n.314-1011_314-994del
XR_244074.2:n.798_815del
XM_011528010.2:c.648_665del XP_011526312.1:p.Asp217_Cys222del
XR_001753685.2:n.765_782del
XR_001753686.2:n.765_782del
NM_000527.5:c.648_665del MANE Select NP_000518.1:p.Asp217_Cys222del
NM_001195798.2:c.648_665del NP_001182727.1:p.Asp217_Cys222del
NM_001195799.2:c.525_542del NP_001182728.1:p.Asp176_Cys181del
NM_001195800.2:c.314-1838_314-1821del NP_001182729.1:n.314-1838_314-1821del
NM_001195803.2:c.314-1011_314-994del NP_001182732.1:n.314-1011_314-994del