Canonical Allele Identifier: CA2497030142
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105567_11105569del , CM000681.2:g.11105567_11105569del GRCh38
NC_000019.9:g.11216243_11216245del , CM000681.1:g.11216243_11216245del GRCh37
NC_000019.8:g.11077243_11077245del NCBI36
NG_009060.1:g.21187_21189del , LRG_274:g.21187_21189del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.919_921del ENSP00000252444.6:p.Asp307del
ENST00000559340.2:c.661_663del ENSP00000453696.2:p.Asp221del
ENST00000560467.2:c.661_663del ENSP00000453513.2:p.Asp221del
ENST00000558518.6:c.661_663del MANE Select ENSP00000454071.1:p.Asp221del
ENST00000252444.9:c.915_917del
ENST00000455727.6:c.314-1825_314-1823del ENSP00000397829.2:n.314-1825_314-1823del
ENST00000535915.5:c.538_540del ENSP00000440520.1:p.Asp180del
ENST00000545707.5:c.314-998_314-996del ENSP00000437639.1:n.314-998_314-996del
ENST00000557933.5:c.661_663del ENSP00000453557.1:p.Asp221del
ENST00000558013.5:c.661_663del ENSP00000453346.1:p.Asp221del
ENST00000558518.5:c.661_663del ENSP00000454071.1:p.Asp221del
ENST00000560467.1:c.261_263del
NM_000527.4:c.661_663del , LRG_274t1:c.661_663del NP_000518.1:p.Asp221del
NM_001195798.1:c.661_663del NP_001182727.1:p.Asp221del
NM_001195799.1:c.538_540del NP_001182728.1:p.Asp180del
NM_001195800.1:c.314-1825_314-1823del NP_001182729.1:n.314-1825_314-1823del
NM_001195803.1:c.314-998_314-996del NP_001182732.1:n.314-998_314-996del
XM_011528010.1:c.661_663del XP_011526312.1:p.Asp221del
XM_011528011.1:c.314-998_314-996del XP_011526313.1:n.314-998_314-996del
XR_244074.2:n.811_813del
XM_011528010.2:c.661_663del XP_011526312.1:p.Asp221del
XR_001753685.2:n.778_780del
XR_001753686.2:n.778_780del
NM_000527.5:c.661_663del MANE Select NP_000518.1:p.Asp221del
NM_001195798.2:c.661_663del NP_001182727.1:p.Asp221del
NM_001195799.2:c.538_540del NP_001182728.1:p.Asp180del
NM_001195800.2:c.314-1825_314-1823del NP_001182729.1:n.314-1825_314-1823del
NM_001195803.2:c.314-998_314-996del NP_001182732.1:n.314-998_314-996del