Canonical Allele Identifier: CA2695228324
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128064_11128065del , CM000681.2:g.11128064_11128065del GRCh38
NC_000019.9:g.11238740_11238741del , CM000681.1:g.11238740_11238741del GRCh37
NC_000019.8:g.11099740_11099741del NCBI36
NG_009060.1:g.43684_43685del , LRG_274:g.43684_43685del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2626_2627del ENSP00000252444.6:p.Leu876ValfsTer26
ENST00000559340.2:c.*437_*438del ENSP00000453696.2:n.*437_*438del
ENST00000560467.2:c.2248_2249del ENSP00000453513.2:p.Leu750ValfsTer26
ENST00000558518.6:c.2368_2369del MANE Select ENSP00000454071.1:p.Leu790ValfsTer26
ENST00000252444.9:c.2622_2623del
ENST00000455727.6:c.1864_1865del ENSP00000397829.2:p.Leu622ValfsTer26
ENST00000535915.5:c.2245_2246del ENSP00000440520.1:p.Leu749ValfsTer26
ENST00000545707.5:c.1834_1835del ENSP00000437639.1:p.Leu612ValfsTer26
ENST00000557933.5:c.2368_2369del ENSP00000453557.1:p.Leu790ValfsTer20
ENST00000558013.5:c.2368_2369del ENSP00000453346.1:p.Leu790ValfsTer26
ENST00000558518.5:c.2368_2369del ENSP00000454071.1:p.Leu790ValfsTer26
ENST00000560628.1:n.108+410_108+411del
NM_000527.4:c.2368_2369del , LRG_274t1:c.2368_2369del NP_000518.1:p.Leu790ValfsTer26
NM_001195798.1:c.2368_2369del NP_001182727.1:p.Leu790ValfsTer26
NM_001195799.1:c.2245_2246del NP_001182728.1:p.Leu749ValfsTer26
NM_001195800.1:c.1864_1865del NP_001182729.1:p.Leu622ValfsTer26
NM_001195803.1:c.1834_1835del NP_001182732.1:p.Leu612ValfsTer26
XM_011528010.1:c.2312-1449_2312-1448del XP_011526312.1:n.2312-1449_2312-1448del
XM_011528011.1:c.1987_1988del XP_011526313.1:p.Leu663ValfsTer26
XR_244074.2:n.2378_2379del
XM_011528010.2:c.2312-1449_2312-1448del XP_011526312.1:n.2312-1449_2312-1448del
XR_001753685.2:n.2702_2703del
XR_001753686.2:n.2345_2346del
NM_000527.5:c.2368_2369del MANE Select NP_000518.1:p.Leu790ValfsTer26
NM_001195798.2:c.2368_2369del NP_001182727.1:p.Leu790ValfsTer26
NM_001195799.2:c.2245_2246del NP_001182728.1:p.Leu749ValfsTer26
NM_001195800.2:c.1864_1865del NP_001182729.1:p.Leu622ValfsTer26
NM_001195803.2:c.1834_1835del NP_001182732.1:p.Leu612ValfsTer26