Canonical Allele Identifier: CA2695238655
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2672294
ClinVar RCV Id: RCV003882772
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105441_11105442delinsAT , CM000681.2:g.11105441_11105442delinsAT GRCh38
NC_000019.9:g.11216117_11216118delinsAT , CM000681.1:g.11216117_11216118delinsAT GRCh37
NC_000019.8:g.11077117_11077118delinsAT NCBI36
NG_009060.1:g.21061_21062delinsAT , LRG_274:g.21061_21062delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.793_794delinsAT ENSP00000252444.6:p.Glu265Met
ENST00000559340.2:c.535_536delinsAT ENSP00000453696.2:p.Glu179Met
ENST00000560467.2:c.535_536delinsAT ENSP00000453513.2:p.Glu179Met
ENST00000558518.6:c.535_536delinsAT MANE Select ENSP00000454071.1:p.Glu179Met
ENST00000252444.9:c.789_790delinsAT
ENST00000455727.6:c.314-1951_314-1950delinsAT ENSP00000397829.2:n.314-1951_314-1950delinsAT
ENST00000535915.5:c.412_413delinsAT ENSP00000440520.1:p.Glu138Met
ENST00000545707.5:c.314-1124_314-1123delinsAT ENSP00000437639.1:n.314-1124_314-1123delinsAT
ENST00000557933.5:c.535_536delinsAT ENSP00000453557.1:p.Glu179Met
ENST00000558013.5:c.535_536delinsAT ENSP00000453346.1:p.Glu179Met
ENST00000558518.5:c.535_536delinsAT ENSP00000454071.1:p.Glu179Met
ENST00000560467.1:c.135_136delinsAT
NM_000527.4:c.535_536delinsAT , LRG_274t1:c.535_536delinsAT NP_000518.1:p.Glu179Met
NM_001195798.1:c.535_536delinsAT NP_001182727.1:p.Glu179Met
NM_001195799.1:c.412_413delinsAT NP_001182728.1:p.Glu138Met
NM_001195800.1:c.314-1951_314-1950delinsAT NP_001182729.1:n.314-1951_314-1950delinsAT
NM_001195803.1:c.314-1124_314-1123delinsAT NP_001182732.1:n.314-1124_314-1123delinsAT
XM_011528010.1:c.535_536delinsAT XP_011526312.1:p.Glu179Met
XM_011528011.1:c.314-1124_314-1123delinsAT XP_011526313.1:n.314-1124_314-1123delinsAT
XR_244074.2:n.685_686delinsAT
XM_011528010.2:c.535_536delinsAT XP_011526312.1:p.Glu179Met
XR_001753685.2:n.652_653delinsAT
XR_001753686.2:n.652_653delinsAT
NM_000527.5:c.535_536delinsAT MANE Select NP_000518.1:p.Glu179Met
NM_001195798.2:c.535_536delinsAT NP_001182727.1:p.Glu179Met
NM_001195799.2:c.412_413delinsAT NP_001182728.1:p.Glu138Met
NM_001195800.2:c.314-1951_314-1950delinsAT NP_001182729.1:n.314-1951_314-1950delinsAT
NM_001195803.2:c.314-1124_314-1123delinsAT NP_001182732.1:n.314-1124_314-1123delinsAT
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