Canonical Allele Identifier: CA2739291176
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123193del , CM000681.2:g.11123193del GRCh38
NC_000019.9:g.11233869del , CM000681.1:g.11233869del GRCh37
NC_000019.8:g.11094869del NCBI36
NG_009060.1:g.38813del , LRG_274:g.38813del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2418del ENSP00000252444.6:p.Thr807ProfsTer9
ENST00000559340.2:c.*229del ENSP00000453696.2:n.*229del
ENST00000560467.2:c.2040del ENSP00000453513.2:p.Thr681ProfsTer9
ENST00000558518.6:c.2160del MANE Select ENSP00000454071.1:p.Thr721ProfsTer9
ENST00000252444.9:c.2414del
ENST00000455727.6:c.1656del ENSP00000397829.2:p.Thr553ProfsTer9
ENST00000535915.5:c.2037del ENSP00000440520.1:p.Thr680ProfsTer9
ENST00000545707.5:c.1626del ENSP00000437639.1:p.Thr543ProfsTer9
ENST00000557933.5:c.2160del ENSP00000453557.1:p.Thr721ProfsTer9
ENST00000558013.5:c.2160del ENSP00000453346.1:p.Thr721ProfsTer9
ENST00000558518.5:c.2160del ENSP00000454071.1:p.Thr721ProfsTer9
NM_000527.4:c.2160del , LRG_274t1:c.2160del NP_000518.1:p.Thr721ProfsTer9
NM_001195798.1:c.2160del NP_001182727.1:p.Thr721ProfsTer9
NM_001195799.1:c.2037del NP_001182728.1:p.Thr680ProfsTer9
NM_001195800.1:c.1656del NP_001182729.1:p.Thr553ProfsTer9
NM_001195803.1:c.1626del NP_001182732.1:p.Thr543ProfsTer9
XM_011528010.1:c.2160del XP_011526312.1:p.Thr721ProfsTer9
XM_011528011.1:c.1779del XP_011526313.1:p.Thr594ProfsTer9
XR_244074.2:n.2170del
XM_011528010.2:c.2160del XP_011526312.1:p.Thr721ProfsTer9
XR_001753685.2:n.2494del
XR_001753686.2:n.2137del
NM_000527.5:c.2160del MANE Select NP_000518.1:p.Thr721ProfsTer9
NM_001195798.2:c.2160del NP_001182727.1:p.Thr721ProfsTer9
NM_001195799.2:c.2037del NP_001182728.1:p.Thr680ProfsTer9
NM_001195800.2:c.1656del NP_001182729.1:p.Thr553ProfsTer9
NM_001195803.2:c.1626del NP_001182732.1:p.Thr543ProfsTer9