Canonical Allele Identifier: CA2695228176
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113555del , CM000681.2:g.11113555del GRCh38
NC_000019.9:g.11224231del , CM000681.1:g.11224231del GRCh37
NC_000019.8:g.11085231del NCBI36
NG_009060.1:g.29175del , LRG_274:g.29175del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1637del ENSP00000252444.6:p.His546ProfsTer?
ENST00000559340.2:c.1379del ENSP00000453696.2:p.His460ProfsTer?
ENST00000560467.2:c.1259del ENSP00000453513.2:p.His420ProfsTer?
ENST00000558518.6:c.1379del MANE Select ENSP00000454071.1:p.His460ProfsTer?
ENST00000252444.9:c.1633del
ENST00000455727.6:c.875del ENSP00000397829.2:p.His292ProfsTer?
ENST00000535915.5:c.1256del ENSP00000440520.1:p.His419ProfsTer?
ENST00000545707.5:c.998del ENSP00000437639.1:p.His333ProfsTer?
ENST00000557933.5:c.1379del ENSP00000453557.1:p.His460ProfsTer?
ENST00000558013.5:c.1379del ENSP00000453346.1:p.His460ProfsTer?
ENST00000558518.5:c.1379del ENSP00000454071.1:p.His460ProfsTer?
ENST00000559340.1:c.100del
ENST00000560467.1:c.859del
NM_000527.4:c.1379del , LRG_274t1:c.1379del NP_000518.1:p.His460ProfsTer?
NM_001195798.1:c.1379del NP_001182727.1:p.His460ProfsTer?
NM_001195799.1:c.1256del NP_001182728.1:p.His419ProfsTer?
NM_001195800.1:c.875del NP_001182729.1:p.His292ProfsTer?
NM_001195803.1:c.998del NP_001182732.1:p.His333ProfsTer?
XM_011528010.1:c.1379del XP_011526312.1:p.His460ProfsTer?
XM_011528011.1:c.998del XP_011526313.1:p.His333ProfsTer?
XR_244074.2:n.1529del
XM_011528010.2:c.1379del XP_011526312.1:p.His460ProfsTer?
XR_001753685.2:n.1496del
XR_001753686.2:n.1496del
NM_000527.5:c.1379del MANE Select NP_000518.1:p.His460ProfsTer?
NM_001195798.2:c.1379del NP_001182727.1:p.His460ProfsTer?
NM_001195799.2:c.1256del NP_001182728.1:p.His419ProfsTer?
NM_001195800.2:c.875del NP_001182729.1:p.His292ProfsTer?
NM_001195803.2:c.998del NP_001182732.1:p.His333ProfsTer?