Canonical Allele Identifier: CA2695228323
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128037del , CM000681.2:g.11128037del GRCh38
NC_000019.9:g.11238713del , CM000681.1:g.11238713del GRCh37
NC_000019.8:g.11099713del NCBI36
NG_009060.1:g.43657del , LRG_274:g.43657del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2599del ENSP00000252444.6:p.Glu867ArgfsTer7
ENST00000559340.2:c.*410del ENSP00000453696.2:n.*410del
ENST00000560467.2:c.2221del ENSP00000453513.2:p.Glu741ArgfsTer7
ENST00000558518.6:c.2341del MANE Select ENSP00000454071.1:p.Glu781ArgfsTer7
ENST00000252444.9:c.2595del
ENST00000455727.6:c.1837del ENSP00000397829.2:p.Glu613ArgfsTer7
ENST00000535915.5:c.2218del ENSP00000440520.1:p.Glu740ArgfsTer7
ENST00000545707.5:c.1807del ENSP00000437639.1:p.Glu603ArgfsTer7
ENST00000557933.5:c.2341del ENSP00000453557.1:p.Glu781ArgfsTer7
ENST00000558013.5:c.2341del ENSP00000453346.1:p.Glu781ArgfsTer7
ENST00000558518.5:c.2341del ENSP00000454071.1:p.Glu781ArgfsTer7
ENST00000560628.1:n.108+383del
NM_000527.4:c.2341del , LRG_274t1:c.2341del NP_000518.1:p.Glu781ArgfsTer7
NM_001195798.1:c.2341del NP_001182727.1:p.Glu781ArgfsTer7
NM_001195799.1:c.2218del NP_001182728.1:p.Glu740ArgfsTer7
NM_001195800.1:c.1837del NP_001182729.1:p.Glu613ArgfsTer7
NM_001195803.1:c.1807del NP_001182732.1:p.Glu603ArgfsTer7
XM_011528010.1:c.2312-1476del XP_011526312.1:n.2312-1476del
XM_011528011.1:c.1960del XP_011526313.1:p.Glu654ArgfsTer7
XR_244074.2:n.2351del
XM_011528010.2:c.2312-1476del XP_011526312.1:n.2312-1476del
XR_001753685.2:n.2675del
XR_001753686.2:n.2318del
NM_000527.5:c.2341del MANE Select NP_000518.1:p.Glu781ArgfsTer7
NM_001195798.2:c.2341del NP_001182727.1:p.Glu781ArgfsTer7
NM_001195799.2:c.2218del NP_001182728.1:p.Glu740ArgfsTer7
NM_001195800.2:c.1837del NP_001182729.1:p.Glu613ArgfsTer7
NM_001195803.2:c.1807del NP_001182732.1:p.Glu603ArgfsTer7