Canonical Allele Identifier: CA915951669
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 640361
ClinVar RCV Id: RCV000793373
dbSNP Id: rs1600720921

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110734del , CM000681.2:g.11110734del GRCh38
NC_000019.9:g.11221410del , CM000681.1:g.11221410del GRCh37
NC_000019.8:g.11082410del NCBI36
NG_009060.1:g.26354del , LRG_274:g.26354del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1281del ENSP00000252444.6:p.Asp428ThrfsTer28
ENST00000559340.2:c.1023del ENSP00000453696.2:p.Asp342ThrfsTer28
ENST00000560467.2:c.941-780del ENSP00000453513.2:n.941-780del
ENST00000558518.6:c.1023del MANE Select ENSP00000454071.1:p.Asp342ThrfsTer28
ENST00000252444.9:c.1277del
ENST00000455727.6:c.519del ENSP00000397829.2:p.Asp174ThrfsTer28
ENST00000535915.5:c.900del ENSP00000440520.1:p.Asp301ThrfsTer28
ENST00000545707.5:c.642del ENSP00000437639.1:p.Asp215ThrfsTer28
ENST00000557933.5:c.1023del ENSP00000453557.1:p.Asp342ThrfsTer28
ENST00000558013.5:c.1023del ENSP00000453346.1:p.Asp342ThrfsTer28
ENST00000558518.5:c.1023del ENSP00000454071.1:p.Asp342ThrfsTer28
ENST00000560173.1:n.22del
ENST00000560467.1:c.541-780del
NM_000527.4:c.1023del , LRG_274t1:c.1023del NP_000518.1:p.Asp342ThrfsTer28
NM_001195798.1:c.1023del NP_001182727.1:p.Asp342ThrfsTer28
NM_001195799.1:c.900del NP_001182728.1:p.Asp301ThrfsTer28
NM_001195800.1:c.519del NP_001182729.1:p.Asp174ThrfsTer28
NM_001195803.1:c.642del NP_001182732.1:p.Asp215ThrfsTer28
XM_011528010.1:c.1023del XP_011526312.1:p.Asp342ThrfsTer28
XM_011528011.1:c.642del XP_011526313.1:p.Asp215ThrfsTer28
XR_244074.2:n.1173del
XM_011528010.2:c.1023del XP_011526312.1:p.Asp342ThrfsTer28
XR_001753685.2:n.1140del
XR_001753686.2:n.1140del
NM_000527.5:c.1023del MANE Select NP_000518.1:p.Asp342ThrfsTer28
NM_001195798.2:c.1023del NP_001182727.1:p.Asp342ThrfsTer28
NM_001195799.2:c.900del NP_001182728.1:p.Asp301ThrfsTer28
NM_001195800.2:c.519del NP_001182729.1:p.Asp174ThrfsTer28
NM_001195803.2:c.642del NP_001182732.1:p.Asp215ThrfsTer28