Canonical Allele Identifier: CA1139666255
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977984
ClinVar RCV Id: RCV001255936
dbSNP Id: rs879254628
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105576_11105581dup , CM000681.2:g.11105576_11105581dup GRCh38
NC_000019.9:g.11216252_11216257dup , CM000681.1:g.11216252_11216257dup GRCh37
NC_000019.8:g.11077252_11077257dup NCBI36
NG_009060.1:g.21196_21201dup , LRG_274:g.21196_21201dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.928_933dup ENSP00000252444.6:p.Lys311_Ser312insAspLys
ENST00000559340.2:c.670_675dup ENSP00000453696.2:p.Lys225_Ser226insAspLys
ENST00000560467.2:c.670_675dup ENSP00000453513.2:p.Lys225_Ser226insAspLys
ENST00000558518.6:c.670_675dup MANE Select ENSP00000454071.1:p.Lys225_Ser226insAspLys
ENST00000252444.9:c.924_929dup
ENST00000455727.6:c.314-1816_314-1811dup ENSP00000397829.2:n.314-1816_314-1811dup
ENST00000535915.5:c.547_552dup ENSP00000440520.1:p.Lys184_Ser185insAspLys
ENST00000545707.5:c.314-989_314-984dup ENSP00000437639.1:n.314-989_314-984dup
ENST00000557933.5:c.670_675dup ENSP00000453557.1:p.Lys225_Ser226insAspLys
ENST00000558013.5:c.670_675dup ENSP00000453346.1:p.Lys225_Ser226insAspLys
ENST00000558518.5:c.670_675dup ENSP00000454071.1:p.Lys225_Ser226insAspLys
ENST00000560467.1:c.270_275dup
NM_000527.4:c.670_675dup , LRG_274t1:c.670_675dup NP_000518.1:p.Lys225_Ser226insAspLys
NM_001195798.1:c.670_675dup NP_001182727.1:p.Lys225_Ser226insAspLys
NM_001195799.1:c.547_552dup NP_001182728.1:p.Lys184_Ser185insAspLys
NM_001195800.1:c.314-1816_314-1811dup NP_001182729.1:n.314-1816_314-1811dup
NM_001195803.1:c.314-989_314-984dup NP_001182732.1:n.314-989_314-984dup
XM_011528010.1:c.670_675dup XP_011526312.1:p.Lys225_Ser226insAspLys
XM_011528011.1:c.314-989_314-984dup XP_011526313.1:n.314-989_314-984dup
XR_244074.2:n.820_825dup
XM_011528010.2:c.670_675dup XP_011526312.1:p.Lys225_Ser226insAspLys
XR_001753685.2:n.787_792dup
XR_001753686.2:n.787_792dup
NM_000527.5:c.670_675dup MANE Select NP_000518.1:p.Lys225_Ser226insAspLys
NM_001195798.2:c.670_675dup NP_001182727.1:p.Lys225_Ser226insAspLys
NM_001195799.2:c.547_552dup NP_001182728.1:p.Lys184_Ser185insAspLys
NM_001195800.2:c.314-1816_314-1811dup NP_001182729.1:n.314-1816_314-1811dup
NM_001195803.2:c.314-989_314-984dup NP_001182732.1:n.314-989_314-984dup
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