Canonical Allele Identifier: CA2573050581
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105573_11105586dup , CM000681.2:g.11105573_11105586dup GRCh38
NC_000019.9:g.11216249_11216262dup , CM000681.1:g.11216249_11216262dup GRCh37
NC_000019.8:g.11077249_11077262dup NCBI36
NG_009060.1:g.21193_21206dup , LRG_274:g.21193_21206dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.925_938dup ENSP00000252444.6:p.Asp313GlufsTer?
ENST00000559340.2:c.667_680dup ENSP00000453696.2:p.Asp227GlufsTer?
ENST00000560467.2:c.667_680dup ENSP00000453513.2:p.Asp227GlufsTer?
ENST00000558518.6:c.667_680dup MANE Select ENSP00000454071.1:p.Asp227GlufsTer?
ENST00000252444.9:c.921_934dup
ENST00000455727.6:c.314-1819_314-1806dup ENSP00000397829.2:n.314-1819_314-1806dup
ENST00000535915.5:c.544_557dup ENSP00000440520.1:p.Asp186GlufsTer?
ENST00000545707.5:c.314-992_314-979dup ENSP00000437639.1:n.314-992_314-979dup
ENST00000557933.5:c.667_680dup ENSP00000453557.1:p.Asp227GlufsTer?
ENST00000558013.5:c.667_680dup ENSP00000453346.1:p.Asp227GlufsTer?
ENST00000558518.5:c.667_680dup ENSP00000454071.1:p.Asp227GlufsTer?
ENST00000560467.1:c.267_280dup
NM_000527.4:c.667_680dup , LRG_274t1:c.667_680dup NP_000518.1:p.Asp227GlufsTer?
NM_001195798.1:c.667_680dup NP_001182727.1:p.Asp227GlufsTer?
NM_001195799.1:c.544_557dup NP_001182728.1:p.Asp186GlufsTer?
NM_001195800.1:c.314-1819_314-1806dup NP_001182729.1:n.314-1819_314-1806dup
NM_001195803.1:c.314-992_314-979dup NP_001182732.1:n.314-992_314-979dup
XM_011528010.1:c.667_680dup XP_011526312.1:p.Asp227GlufsTer?
XM_011528011.1:c.314-992_314-979dup XP_011526313.1:n.314-992_314-979dup
XR_244074.2:n.817_830dup
XM_011528010.2:c.667_680dup XP_011526312.1:p.Asp227GlufsTer?
XR_001753685.2:n.784_797dup
XR_001753686.2:n.784_797dup
NM_000527.5:c.667_680dup MANE Select NP_000518.1:p.Asp227GlufsTer?
NM_001195798.2:c.667_680dup NP_001182727.1:p.Asp227GlufsTer?
NM_001195799.2:c.544_557dup NP_001182728.1:p.Asp186GlufsTer?
NM_001195800.2:c.314-1819_314-1806dup NP_001182729.1:n.314-1819_314-1806dup
NM_001195803.2:c.314-992_314-979dup NP_001182732.1:n.314-992_314-979dup