Canonical Allele Identifier: CA2497030120
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105450delinsGCCCAAT , CM000681.2:g.11105450delinsGCCCAAT GRCh38
NC_000019.9:g.11216126delinsGCCCAAT , CM000681.1:g.11216126delinsGCCCAAT GRCh37
NC_000019.8:g.11077126delinsGCCCAAT NCBI36
NG_009060.1:g.21070delinsGCCCAAT , LRG_274:g.21070delinsGCCCAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.802delinsGCCCAAT ENSP00000252444.6:p.Gln268AlafsTer3
ENST00000559340.2:c.544delinsGCCCAAT ENSP00000453696.2:p.Gln182AlafsTer3
ENST00000560467.2:c.544delinsGCCCAAT ENSP00000453513.2:p.Gln182AlafsTer3
ENST00000558518.6:c.544delinsGCCCAAT MANE Select ENSP00000454071.1:p.Gln182AlafsTer3
ENST00000252444.9:c.798delinsGCCCAAT
ENST00000455727.6:c.314-1942delinsGCCCAAT ENSP00000397829.2:n.314-1942delinsGCCCAAT
ENST00000535915.5:c.421delinsGCCCAAT ENSP00000440520.1:p.Gln141AlafsTer3
ENST00000545707.5:c.314-1115delinsGCCCAAT ENSP00000437639.1:n.314-1115delinsGCCCAAT
ENST00000557933.5:c.544delinsGCCCAAT ENSP00000453557.1:p.Gln182AlafsTer3
ENST00000558013.5:c.544delinsGCCCAAT ENSP00000453346.1:p.Gln182AlafsTer3
ENST00000558518.5:c.544delinsGCCCAAT ENSP00000454071.1:p.Gln182AlafsTer3
ENST00000560467.1:c.144delinsGCCCAAT
NM_000527.4:c.544delinsGCCCAAT , LRG_274t1:c.544delinsGCCCAAT NP_000518.1:p.Gln182AlafsTer3
NM_001195798.1:c.544delinsGCCCAAT NP_001182727.1:p.Gln182AlafsTer3
NM_001195799.1:c.421delinsGCCCAAT NP_001182728.1:p.Gln141AlafsTer3
NM_001195800.1:c.314-1942delinsGCCCAAT NP_001182729.1:n.314-1942delinsGCCCAAT
NM_001195803.1:c.314-1115delinsGCCCAAT NP_001182732.1:n.314-1115delinsGCCCAAT
XM_011528010.1:c.544delinsGCCCAAT XP_011526312.1:p.Gln182AlafsTer3
XM_011528011.1:c.314-1115delinsGCCCAAT XP_011526313.1:n.314-1115delinsGCCCAAT
XR_244074.2:n.694delinsGCCCAAT
XM_011528010.2:c.544delinsGCCCAAT XP_011526312.1:p.Gln182AlafsTer3
XR_001753685.2:n.661delinsGCCCAAT
XR_001753686.2:n.661delinsGCCCAAT
NM_000527.5:c.544delinsGCCCAAT MANE Select NP_000518.1:p.Gln182AlafsTer3
NM_001195798.2:c.544delinsGCCCAAT NP_001182727.1:p.Gln182AlafsTer3
NM_001195799.2:c.421delinsGCCCAAT NP_001182728.1:p.Gln141AlafsTer3
NM_001195800.2:c.314-1942delinsGCCCAAT NP_001182729.1:n.314-1942delinsGCCCAAT
NM_001195803.2:c.314-1115delinsGCCCAAT NP_001182732.1:n.314-1115delinsGCCCAAT