Canonical Allele Identifier: CA2825002698
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3118263
ClinVar RCV Id: RCV004412644
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105387_11105388insGACAGC , CM000681.2:g.11105387_11105388insGACAGC GRCh38
NC_000019.9:g.11216063_11216064insGACAGC , CM000681.1:g.11216063_11216064insGACAGC GRCh37
NC_000019.8:g.11077063_11077064insGACAGC NCBI36
NG_009060.1:g.21007_21008insGACAGC , LRG_274:g.21007_21008insGACAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.739_740insGACAGC ENSP00000252444.6:p.Ile247delinsArgGlnLeu
ENST00000559340.2:c.481_482insGACAGC ENSP00000453696.2:p.Ile161delinsArgGlnLeu
ENST00000560467.2:c.481_482insGACAGC ENSP00000453513.2:p.Ile161delinsArgGlnLeu
ENST00000558518.6:c.481_482insGACAGC MANE Select ENSP00000454071.1:p.Ile161delinsArgGlnLeu
ENST00000252444.9:c.735_736insGACAGC
ENST00000455727.6:c.314-2005_314-2004insGACAGC ENSP00000397829.2:n.314-2005_314-2004insGACAGC
ENST00000535915.5:c.358_359insGACAGC ENSP00000440520.1:p.Ile120delinsArgGlnLeu
ENST00000545707.5:c.314-1178_314-1177insGACAGC ENSP00000437639.1:n.314-1178_314-1177insGACAGC
ENST00000557933.5:c.481_482insGACAGC ENSP00000453557.1:p.Ile161delinsArgGlnLeu
ENST00000558013.5:c.481_482insGACAGC ENSP00000453346.1:p.Ile161delinsArgGlnLeu
ENST00000558518.5:c.481_482insGACAGC ENSP00000454071.1:p.Ile161delinsArgGlnLeu
ENST00000560467.1:c.81_82insGACAGC
NM_000527.4:c.481_482insGACAGC , LRG_274t1:c.481_482insGACAGC NP_000518.1:p.Ile161delinsArgGlnLeu
NM_001195798.1:c.481_482insGACAGC NP_001182727.1:p.Ile161delinsArgGlnLeu
NM_001195799.1:c.358_359insGACAGC NP_001182728.1:p.Ile120delinsArgGlnLeu
NM_001195800.1:c.314-2005_314-2004insGACAGC NP_001182729.1:n.314-2005_314-2004insGACAGC
NM_001195803.1:c.314-1178_314-1177insGACAGC NP_001182732.1:n.314-1178_314-1177insGACAGC
XM_011528010.1:c.481_482insGACAGC XP_011526312.1:p.Ile161delinsArgGlnLeu
XM_011528011.1:c.314-1178_314-1177insGACAGC XP_011526313.1:n.314-1178_314-1177insGACAGC
XR_244074.2:n.631_632insGACAGC
XM_011528010.2:c.481_482insGACAGC XP_011526312.1:p.Ile161delinsArgGlnLeu
XR_001753685.2:n.598_599insGACAGC
XR_001753686.2:n.598_599insGACAGC
NM_000527.5:c.481_482insGACAGC MANE Select NP_000518.1:p.Ile161delinsArgGlnLeu
NM_001195798.2:c.481_482insGACAGC NP_001182727.1:p.Ile161delinsArgGlnLeu
NM_001195799.2:c.358_359insGACAGC NP_001182728.1:p.Ile120delinsArgGlnLeu
NM_001195800.2:c.314-2005_314-2004insGACAGC NP_001182729.1:n.314-2005_314-2004insGACAGC
NM_001195803.2:c.314-1178_314-1177insGACAGC NP_001182732.1:n.314-1178_314-1177insGACAGC
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