Canonical Allele Identifier: CA645509262
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440589
dbSNP Id: rs1555803409

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105564_11105569del , CM000681.2:g.11105564_11105569del GRCh38
NC_000019.9:g.11216240_11216245del , CM000681.1:g.11216240_11216245del GRCh37
NC_000019.8:g.11077240_11077245del NCBI36
NG_009060.1:g.21184_21189del , LRG_274:g.21184_21189del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.916_921del ENSP00000252444.6:p.Pro306_Asp307del
ENST00000559340.2:c.658_663del ENSP00000453696.2:p.Pro220_Asp221del
ENST00000560467.2:c.658_663del ENSP00000453513.2:p.Pro220_Asp221del
ENST00000558518.6:c.658_663del MANE Select ENSP00000454071.1:p.Pro220_Asp221del
ENST00000252444.9:c.912_917del
ENST00000455727.6:c.314-1828_314-1823del ENSP00000397829.2:n.314-1828_314-1823del
ENST00000535915.5:c.535_540del ENSP00000440520.1:p.Pro179_Asp180del
ENST00000545707.5:c.314-1001_314-996del ENSP00000437639.1:n.314-1001_314-996del
ENST00000557933.5:c.658_663del ENSP00000453557.1:p.Pro220_Asp221del
ENST00000558013.5:c.658_663del ENSP00000453346.1:p.Pro220_Asp221del
ENST00000558518.5:c.658_663del ENSP00000454071.1:p.Pro220_Asp221del
ENST00000560467.1:c.258_263del
NM_000527.4:c.658_663del , LRG_274t1:c.658_663del NP_000518.1:p.Pro220_Asp221del
NM_001195798.1:c.658_663del NP_001182727.1:p.Pro220_Asp221del
NM_001195799.1:c.535_540del NP_001182728.1:p.Pro179_Asp180del
NM_001195800.1:c.314-1828_314-1823del NP_001182729.1:n.314-1828_314-1823del
NM_001195803.1:c.314-1001_314-996del NP_001182732.1:n.314-1001_314-996del
XM_011528010.1:c.658_663del XP_011526312.1:p.Pro220_Asp221del
XM_011528011.1:c.314-1001_314-996del XP_011526313.1:n.314-1001_314-996del
XR_244074.2:n.808_813del
XM_011528010.2:c.658_663del XP_011526312.1:p.Pro220_Asp221del
XR_001753685.2:n.775_780del
XR_001753686.2:n.775_780del
NM_000527.5:c.658_663del MANE Select NP_000518.1:p.Pro220_Asp221del
NM_001195798.2:c.658_663del NP_001182727.1:p.Pro220_Asp221del
NM_001195799.2:c.535_540del NP_001182728.1:p.Pro179_Asp180del
NM_001195800.2:c.314-1828_314-1823del NP_001182729.1:n.314-1828_314-1823del
NM_001195803.2:c.314-1001_314-996del NP_001182732.1:n.314-1001_314-996del