Canonical Allele Identifier: CA2838010115
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106589_11106596del , CM000681.2:g.11106589_11106596del GRCh38
NC_000019.9:g.11217265_11217272del , CM000681.1:g.11217265_11217272del GRCh37
NC_000019.8:g.11078265_11078272del NCBI36
NG_009060.1:g.22209_22216del , LRG_274:g.22209_22216del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.977_984del ENSP00000252444.6:p.Glu326ValfsTer3
ENST00000559340.2:c.719_726del ENSP00000453696.2:p.Glu240ValfsTer3
ENST00000560467.2:c.719_726del ENSP00000453513.2:p.Glu240ValfsTer3
ENST00000558518.6:c.719_726del MANE Select ENSP00000454071.1:p.Glu240ValfsTer3
ENST00000252444.9:c.973_980del
ENST00000455727.6:c.314-803_314-796del ENSP00000397829.2:n.314-803_314-796del
ENST00000535915.5:c.596_603del ENSP00000440520.1:p.Glu199ValfsTer3
ENST00000545707.5:c.338_345del ENSP00000437639.1:p.Glu113ValfsTer3
ENST00000557933.5:c.719_726del ENSP00000453557.1:p.Glu240ValfsTer3
ENST00000558013.5:c.719_726del ENSP00000453346.1:p.Glu240ValfsTer3
ENST00000558518.5:c.719_726del ENSP00000454071.1:p.Glu240ValfsTer3
ENST00000558528.1:n.234_241del
ENST00000560467.1:c.319_326del
NM_000527.4:c.719_726del , LRG_274t1:c.719_726del NP_000518.1:p.Glu240ValfsTer3
NM_001195798.1:c.719_726del NP_001182727.1:p.Glu240ValfsTer3
NM_001195799.1:c.596_603del NP_001182728.1:p.Glu199ValfsTer3
NM_001195800.1:c.314-803_314-796del NP_001182729.1:n.314-803_314-796del
NM_001195803.1:c.338_345del NP_001182732.1:p.Glu113ValfsTer3
XM_011528010.1:c.719_726del XP_011526312.1:p.Glu240ValfsTer3
XM_011528011.1:c.338_345del XP_011526313.1:p.Glu113ValfsTer3
XR_244074.2:n.869_876del
XM_011528010.2:c.719_726del XP_011526312.1:p.Glu240ValfsTer3
XR_001753685.2:n.836_843del
XR_001753686.2:n.836_843del
NM_000527.5:c.719_726del MANE Select NP_000518.1:p.Glu240ValfsTer3
NM_001195798.2:c.719_726del NP_001182727.1:p.Glu240ValfsTer3
NM_001195799.2:c.596_603del NP_001182728.1:p.Glu199ValfsTer3
NM_001195800.2:c.314-803_314-796del NP_001182729.1:n.314-803_314-796del
NM_001195803.2:c.338_345del NP_001182732.1:p.Glu113ValfsTer3