Canonical Allele Identifier: CA2830763865
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113343_11113351dup , CM000681.2:g.11113343_11113351dup GRCh38
NC_000019.9:g.11224019_11224027dup , CM000681.1:g.11224019_11224027dup GRCh37
NC_000019.8:g.11085019_11085027dup NCBI36
NG_009060.1:g.28963_28971dup , LRG_274:g.28963_28971dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1510_1518dup ENSP00000252444.6:p.Thr506_Ser507insGluTyrThr
ENST00000559340.2:c.1252_1260dup ENSP00000453696.2:p.Thr420_Ser421insGluTyrThr
ENST00000560467.2:c.1132_1140dup ENSP00000453513.2:p.Thr380_Ser381insGluTyrThr
ENST00000558518.6:c.1252_1260dup MANE Select ENSP00000454071.1:p.Thr420_Ser421insGluTyrThr
ENST00000252444.9:c.1506_1514dup
ENST00000455727.6:c.748_756dup ENSP00000397829.2:p.Thr252_Ser253insGluTyrThr
ENST00000535915.5:c.1129_1137dup ENSP00000440520.1:p.Thr379_Ser380insGluTyrThr
ENST00000545707.5:c.871_879dup ENSP00000437639.1:p.Thr293_Ser294insGluTyrThr
ENST00000557933.5:c.1252_1260dup ENSP00000453557.1:p.Thr420_Ser421insGluTyrThr
ENST00000558013.5:c.1252_1260dup ENSP00000453346.1:p.Thr420_Ser421insGluTyrThr
ENST00000558518.5:c.1252_1260dup ENSP00000454071.1:p.Thr420_Ser421insGluTyrThr
ENST00000560173.1:n.251_259dup
ENST00000560467.1:c.732_740dup
NM_000527.4:c.1252_1260dup , LRG_274t1:c.1252_1260dup NP_000518.1:p.Thr420_Ser421insGluTyrThr
NM_001195798.1:c.1252_1260dup NP_001182727.1:p.Thr420_Ser421insGluTyrThr
NM_001195799.1:c.1129_1137dup NP_001182728.1:p.Thr379_Ser380insGluTyrThr
NM_001195800.1:c.748_756dup NP_001182729.1:p.Thr252_Ser253insGluTyrThr
NM_001195803.1:c.871_879dup NP_001182732.1:p.Thr293_Ser294insGluTyrThr
XM_011528010.1:c.1252_1260dup XP_011526312.1:p.Thr420_Ser421insGluTyrThr
XM_011528011.1:c.871_879dup XP_011526313.1:p.Thr293_Ser294insGluTyrThr
XR_244074.2:n.1402_1410dup
XM_011528010.2:c.1252_1260dup XP_011526312.1:p.Thr420_Ser421insGluTyrThr
XR_001753685.2:n.1369_1377dup
XR_001753686.2:n.1369_1377dup
NM_000527.5:c.1252_1260dup MANE Select NP_000518.1:p.Thr420_Ser421insGluTyrThr
NM_001195798.2:c.1252_1260dup NP_001182727.1:p.Thr420_Ser421insGluTyrThr
NM_001195799.2:c.1129_1137dup NP_001182728.1:p.Thr379_Ser380insGluTyrThr
NM_001195800.2:c.748_756dup NP_001182729.1:p.Thr252_Ser253insGluTyrThr
NM_001195803.2:c.871_879dup NP_001182732.1:p.Thr293_Ser294insGluTyrThr