Canonical Allele Identifier: CA2322767320
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105273_11105298delinsTCTCGGCAGTTCGTCTGTGACTCAGA , CM000681.2:g.11105273_11105298delinsTCTCGGCAGTTCGTCTGTGACTCAGA GRCh38
NC_000019.9:g.11215949_11215974delinsTCTCGGCAGTTCGTCTGTGACTCAGA , CM000681.1:g.11215949_11215974delinsTCTCGGCAGTTCGTCTGTGACTCAGA GRCh37
NC_000019.8:g.11076949_11076974delinsTCTCGGCAGTTCGTCTGTGACTCAGA NCBI36
NG_009060.1:g.20893_20918delinsTCTCGGCAGTTCGTCTGTGACTCAGA , LRG_274:g.20893_20918delinsTCTCGGCAGTTCGTCTGTGACTCAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.625_650delinsTCTCGGCAGTTCGTCTGTGACTCAGA ENSP00000252444.6:p.Ser209=
ENST00000559340.2:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA ENSP00000453696.2:p.Ser123=
ENST00000560467.2:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA ENSP00000453513.2:p.Ser123=
ENST00000558518.6:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA MANE Select ENSP00000454071.1:p.Ser123=
ENST00000252444.9:c.621_646delinsTCTCGGCAGTTCGTCTGTGACTCAGA
ENST00000455727.6:c.314-2119_314-2094delinsTCTCGGCAGTTCGTCTGTGACTCAGA ENSP00000397829.2:n.314-2119_314-2094delinsTCTCGGCAGTTCGTCTGT...
ENST00000535915.5:c.244_269delinsTCTCGGCAGTTCGTCTGTGACTCAGA ENSP00000440520.1:p.Ser82=
ENST00000545707.5:c.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGACTCAGA ENSP00000437639.1:n.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGT...
ENST00000557933.5:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA ENSP00000453557.1:p.Ser123=
ENST00000558013.5:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA ENSP00000453346.1:p.Ser123=
ENST00000558518.5:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA ENSP00000454071.1:p.Ser123=
NM_000527.4:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA , LRG_274t1:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA NP_000518.1:p.Ser123=
NM_001195798.1:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA NP_001182727.1:p.Ser123=
NM_001195799.1:c.244_269delinsTCTCGGCAGTTCGTCTGTGACTCAGA NP_001182728.1:p.Ser82=
NM_001195800.1:c.314-2119_314-2094delinsTCTCGGCAGTTCGTCTGTGACTCAGA NP_001182729.1:n.314-2119_314-2094delinsTCTCGGCAGTTCGTCTGTGAC...
NM_001195803.1:c.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGACTCAGA NP_001182732.1:n.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGAC...
XM_011528010.1:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA XP_011526312.1:p.Ser123=
XM_011528011.1:c.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGACTCAGA XP_011526313.1:n.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGAC...
XR_244074.2:n.517_542delinsTCTCGGCAGTTCGTCTGTGACTCAGA
XM_011528010.2:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA XP_011526312.1:p.Ser123=
XR_001753685.2:n.484_509delinsTCTCGGCAGTTCGTCTGTGACTCAGA
XR_001753686.2:n.484_509delinsTCTCGGCAGTTCGTCTGTGACTCAGA
NM_000527.5:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA MANE Select NP_000518.1:p.Ser123=
NM_001195798.2:c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA NP_001182727.1:p.Ser123=
NM_001195799.2:c.244_269delinsTCTCGGCAGTTCGTCTGTGACTCAGA NP_001182728.1:p.Ser82=
NM_001195800.2:c.314-2119_314-2094delinsTCTCGGCAGTTCGTCTGTGACTCAGA NP_001182729.1:n.314-2119_314-2094delinsTCTCGGCAGTTCGTCTGTGAC...
NM_001195803.2:c.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGACTCAGA NP_001182732.1:n.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGAC...