Canonical Allele Identifier: CA2695228331
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129534del , CM000681.2:g.11129534del GRCh38
NC_000019.9:g.11240210del , CM000681.1:g.11240210del GRCh37
NC_000019.8:g.11101210del NCBI36
NG_009060.1:g.45154del , LRG_274:g.45154del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2669del ENSP00000252444.6:p.Leu890ArgfsTer?
ENST00000559340.2:c.*480del ENSP00000453696.2:n.*480del
ENST00000560467.2:c.2291del ENSP00000453513.2:p.Leu764ArgfsTer?
ENST00000558518.6:c.2411del MANE Select ENSP00000454071.1:p.Leu804ArgfsTer?
ENST00000252444.9:c.2665del
ENST00000455727.6:c.1907del ENSP00000397829.2:p.Leu636ArgfsTer?
ENST00000535915.5:c.2288del ENSP00000440520.1:p.Leu763ArgfsTer?
ENST00000545707.5:c.1877del ENSP00000437639.1:p.Leu626ArgfsTer?
ENST00000557933.5:c.2473del ENSP00000453557.1:p.Trp825GlyfsTer12
ENST00000558013.5:c.2411del ENSP00000453346.1:p.Leu804ArgfsTer?
ENST00000558518.5:c.2411del ENSP00000454071.1:p.Leu804ArgfsTer?
ENST00000560628.1:n.108+1880del
NM_000527.4:c.2411del , LRG_274t1:c.2411del NP_000518.1:p.Leu804ArgfsTer?
NM_001195798.1:c.2411del NP_001182727.1:p.Leu804ArgfsTer?
NM_001195799.1:c.2288del NP_001182728.1:p.Leu763ArgfsTer?
NM_001195800.1:c.1907del NP_001182729.1:p.Leu636ArgfsTer?
NM_001195803.1:c.1877del NP_001182732.1:p.Leu626ArgfsTer?
XM_011528010.1:c.2333del XP_011526312.1:p.Leu778ArgfsTer?
XM_011528011.1:c.2030del XP_011526313.1:p.Leu677ArgfsTer?
XR_244074.2:n.2421del
XM_011528010.2:c.2333del XP_011526312.1:p.Leu778ArgfsTer?
XR_001753685.2:n.2745del
XR_001753686.2:n.2388del
NM_000527.5:c.2411del MANE Select NP_000518.1:p.Leu804ArgfsTer?
NM_001195798.2:c.2411del NP_001182727.1:p.Leu804ArgfsTer?
NM_001195799.2:c.2288del NP_001182728.1:p.Leu763ArgfsTer?
NM_001195800.2:c.1907del NP_001182729.1:p.Leu636ArgfsTer?
NM_001195803.2:c.1877del NP_001182732.1:p.Leu626ArgfsTer?