Canonical Allele Identifier: CA2695228325
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128077_11128078del , CM000681.2:g.11128077_11128078del GRCh38
NC_000019.9:g.11238753_11238754del , CM000681.1:g.11238753_11238754del GRCh37
NC_000019.8:g.11099753_11099754del NCBI36
NG_009060.1:g.43697_43698del , LRG_274:g.43697_43698del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2639_2640del ENSP00000252444.6:p.Leu880ProfsTer22
ENST00000559340.2:c.*450_*451del ENSP00000453696.2:n.*450_*451del
ENST00000560467.2:c.2261_2262del ENSP00000453513.2:p.Leu754ProfsTer22
ENST00000558518.6:c.2381_2382del MANE Select ENSP00000454071.1:p.Leu794ProfsTer22
ENST00000252444.9:c.2635_2636del
ENST00000455727.6:c.1877_1878del ENSP00000397829.2:p.Leu626ProfsTer22
ENST00000535915.5:c.2258_2259del ENSP00000440520.1:p.Leu753ProfsTer22
ENST00000545707.5:c.1847_1848del ENSP00000437639.1:p.Leu616ProfsTer22
ENST00000557933.5:c.2381_2382del ENSP00000453557.1:p.Leu794ProfsTer16
ENST00000558013.5:c.2381_2382del ENSP00000453346.1:p.Leu794ProfsTer22
ENST00000558518.5:c.2381_2382del ENSP00000454071.1:p.Leu794ProfsTer22
ENST00000560628.1:n.108+423_108+424del
NM_000527.4:c.2381_2382del , LRG_274t1:c.2381_2382del NP_000518.1:p.Leu794ProfsTer22
NM_001195798.1:c.2381_2382del NP_001182727.1:p.Leu794ProfsTer22
NM_001195799.1:c.2258_2259del NP_001182728.1:p.Leu753ProfsTer22
NM_001195800.1:c.1877_1878del NP_001182729.1:p.Leu626ProfsTer22
NM_001195803.1:c.1847_1848del NP_001182732.1:p.Leu616ProfsTer22
XM_011528010.1:c.2312-1436_2312-1435del XP_011526312.1:n.2312-1436_2312-1435del
XM_011528011.1:c.2000_2001del XP_011526313.1:p.Leu667ProfsTer22
XR_244074.2:n.2391_2392del
XM_011528010.2:c.2312-1436_2312-1435del XP_011526312.1:n.2312-1436_2312-1435del
XR_001753685.2:n.2715_2716del
XR_001753686.2:n.2358_2359del
NM_000527.5:c.2381_2382del MANE Select NP_000518.1:p.Leu794ProfsTer22
NM_001195798.2:c.2381_2382del NP_001182727.1:p.Leu794ProfsTer22
NM_001195799.2:c.2258_2259del NP_001182728.1:p.Leu753ProfsTer22
NM_001195800.2:c.1877_1878del NP_001182729.1:p.Leu626ProfsTer22
NM_001195803.2:c.1847_1848del NP_001182732.1:p.Leu616ProfsTer22