Canonical Allele Identifier: CA2825002699
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3118259
ClinVar RCV Id: RCV004412640

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113342_11113345del , CM000681.2:g.11113342_11113345del GRCh38
NC_000019.9:g.11224018_11224021del , CM000681.1:g.11224018_11224021del GRCh37
NC_000019.8:g.11085018_11085021del NCBI36
NG_009060.1:g.28962_28965del , LRG_274:g.28962_28965del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1509_1512del ENSP00000252444.6:p.Glu504ThrfsTer8
ENST00000559340.2:c.1251_1254del ENSP00000453696.2:p.Glu418ThrfsTer8
ENST00000560467.2:c.1131_1134del ENSP00000453513.2:p.Glu378ThrfsTer8
ENST00000558518.6:c.1251_1254del MANE Select ENSP00000454071.1:p.Glu418ThrfsTer8
ENST00000252444.9:c.1505_1508del
ENST00000455727.6:c.747_750del ENSP00000397829.2:p.Glu250ThrfsTer8
ENST00000535915.5:c.1128_1131del ENSP00000440520.1:p.Glu377ThrfsTer8
ENST00000545707.5:c.870_873del ENSP00000437639.1:p.Glu291ThrfsTer8
ENST00000557933.5:c.1251_1254del ENSP00000453557.1:p.Glu418ThrfsTer8
ENST00000558013.5:c.1251_1254del ENSP00000453346.1:p.Glu418ThrfsTer8
ENST00000558518.5:c.1251_1254del ENSP00000454071.1:p.Glu418ThrfsTer8
ENST00000560173.1:n.250_253del
ENST00000560467.1:c.731_734del
NM_000527.4:c.1251_1254del , LRG_274t1:c.1251_1254del NP_000518.1:p.Glu418ThrfsTer8
NM_001195798.1:c.1251_1254del NP_001182727.1:p.Glu418ThrfsTer8
NM_001195799.1:c.1128_1131del NP_001182728.1:p.Glu377ThrfsTer8
NM_001195800.1:c.747_750del NP_001182729.1:p.Glu250ThrfsTer8
NM_001195803.1:c.870_873del NP_001182732.1:p.Glu291ThrfsTer8
XM_011528010.1:c.1251_1254del XP_011526312.1:p.Glu418ThrfsTer8
XM_011528011.1:c.870_873del XP_011526313.1:p.Glu291ThrfsTer8
XR_244074.2:n.1401_1404del
XM_011528010.2:c.1251_1254del XP_011526312.1:p.Glu418ThrfsTer8
XR_001753685.2:n.1368_1371del
XR_001753686.2:n.1368_1371del
NM_000527.5:c.1251_1254del MANE Select NP_000518.1:p.Glu418ThrfsTer8
NM_001195798.2:c.1251_1254del NP_001182727.1:p.Glu418ThrfsTer8
NM_001195799.2:c.1128_1131del NP_001182728.1:p.Glu377ThrfsTer8
NM_001195800.2:c.747_750del NP_001182729.1:p.Glu250ThrfsTer8
NM_001195803.2:c.870_873del NP_001182732.1:p.Glu291ThrfsTer8