Canonical Allele Identifier: CA2580096467
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1753007
ClinVar RCV Id: RCV002368981
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105541_11105549dup , CM000681.2:g.11105541_11105549dup GRCh38
NC_000019.9:g.11216217_11216225dup , CM000681.1:g.11216217_11216225dup GRCh37
NC_000019.8:g.11077217_11077225dup NCBI36
NG_009060.1:g.21161_21169dup , LRG_274:g.21161_21169dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.893_901dup ENSP00000252444.6:p.Trp300_Arg301insProSerTrp
ENST00000559340.2:c.635_643dup ENSP00000453696.2:p.Trp214_Arg215insProSerTrp
ENST00000560467.2:c.635_643dup ENSP00000453513.2:p.Trp214_Arg215insProSerTrp
ENST00000558518.6:c.635_643dup MANE Select ENSP00000454071.1:p.Trp214_Arg215insProSerTrp
ENST00000252444.9:c.889_897dup
ENST00000455727.6:c.314-1851_314-1843dup ENSP00000397829.2:n.314-1851_314-1843dup
ENST00000535915.5:c.512_520dup ENSP00000440520.1:p.Trp173_Arg174insProSerTrp
ENST00000545707.5:c.314-1024_314-1016dup ENSP00000437639.1:n.314-1024_314-1016dup
ENST00000557933.5:c.635_643dup ENSP00000453557.1:p.Trp214_Arg215insProSerTrp
ENST00000558013.5:c.635_643dup ENSP00000453346.1:p.Trp214_Arg215insProSerTrp
ENST00000558518.5:c.635_643dup ENSP00000454071.1:p.Trp214_Arg215insProSerTrp
ENST00000560467.1:c.235_243dup
NM_000527.4:c.635_643dup , LRG_274t1:c.635_643dup NP_000518.1:p.Trp214_Arg215insProSerTrp
NM_001195798.1:c.635_643dup NP_001182727.1:p.Trp214_Arg215insProSerTrp
NM_001195799.1:c.512_520dup NP_001182728.1:p.Trp173_Arg174insProSerTrp
NM_001195800.1:c.314-1851_314-1843dup NP_001182729.1:n.314-1851_314-1843dup
NM_001195803.1:c.314-1024_314-1016dup NP_001182732.1:n.314-1024_314-1016dup
XM_011528010.1:c.635_643dup XP_011526312.1:p.Trp214_Arg215insProSerTrp
XM_011528011.1:c.314-1024_314-1016dup XP_011526313.1:n.314-1024_314-1016dup
XR_244074.2:n.785_793dup
XM_011528010.2:c.635_643dup XP_011526312.1:p.Trp214_Arg215insProSerTrp
XR_001753685.2:n.752_760dup
XR_001753686.2:n.752_760dup
NM_000527.5:c.635_643dup MANE Select NP_000518.1:p.Trp214_Arg215insProSerTrp
NM_001195798.2:c.635_643dup NP_001182727.1:p.Trp214_Arg215insProSerTrp
NM_001195799.2:c.512_520dup NP_001182728.1:p.Trp173_Arg174insProSerTrp
NM_001195800.2:c.314-1851_314-1843dup NP_001182729.1:n.314-1851_314-1843dup
NM_001195803.2:c.314-1024_314-1016dup NP_001182732.1:n.314-1024_314-1016dup
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