Canonical Allele Identifier: CA2695223211
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2790080
ClinVar RCV Id: RCV003741479
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105579_11105588delinsTGCA , CM000681.2:g.11105579_11105588delinsTGCA GRCh38
NC_000019.9:g.11216255_11216264delinsTGCA , CM000681.1:g.11216255_11216264delinsTGCA GRCh37
NC_000019.8:g.11077255_11077264delinsTGCA NCBI36
NG_009060.1:g.21199_21208delinsTGCA , LRG_274:g.21199_21208delinsTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.931_940delinsTGCA ENSP00000252444.6:p.Lys311_Glu314delinsCysLys
ENST00000559340.2:c.673_682delinsTGCA ENSP00000453696.2:p.Lys225_Glu228delinsCysLys
ENST00000560467.2:c.673_682delinsTGCA ENSP00000453513.2:p.Lys225_Glu228delinsCysLys
ENST00000558518.6:c.673_682delinsTGCA MANE Select ENSP00000454071.1:p.Lys225_Glu228delinsCysLys
ENST00000252444.9:c.927_936delinsTGCA
ENST00000455727.6:c.314-1813_314-1804delinsTGCA ENSP00000397829.2:n.314-1813_314-1804delinsTGCA
ENST00000535915.5:c.550_559delinsTGCA ENSP00000440520.1:p.Lys184_Glu187delinsCysLys
ENST00000545707.5:c.314-986_314-977delinsTGCA ENSP00000437639.1:n.314-986_314-977delinsTGCA
ENST00000557933.5:c.673_682delinsTGCA ENSP00000453557.1:p.Lys225_Glu228delinsCysLys
ENST00000558013.5:c.673_682delinsTGCA ENSP00000453346.1:p.Lys225_Glu228delinsCysLys
ENST00000558518.5:c.673_682delinsTGCA ENSP00000454071.1:p.Lys225_Glu228delinsCysLys
ENST00000560467.1:c.273_282delinsTGCA
NM_000527.4:c.673_682delinsTGCA , LRG_274t1:c.673_682delinsTGCA NP_000518.1:p.Lys225_Glu228delinsCysLys
NM_001195798.1:c.673_682delinsTGCA NP_001182727.1:p.Lys225_Glu228delinsCysLys
NM_001195799.1:c.550_559delinsTGCA NP_001182728.1:p.Lys184_Glu187delinsCysLys
NM_001195800.1:c.314-1813_314-1804delinsTGCA NP_001182729.1:n.314-1813_314-1804delinsTGCA
NM_001195803.1:c.314-986_314-977delinsTGCA NP_001182732.1:n.314-986_314-977delinsTGCA
XM_011528010.1:c.673_682delinsTGCA XP_011526312.1:p.Lys225_Glu228delinsCysLys
XM_011528011.1:c.314-986_314-977delinsTGCA XP_011526313.1:n.314-986_314-977delinsTGCA
XR_244074.2:n.823_832delinsTGCA
XM_011528010.2:c.673_682delinsTGCA XP_011526312.1:p.Lys225_Glu228delinsCysLys
XR_001753685.2:n.790_799delinsTGCA
XR_001753686.2:n.790_799delinsTGCA
NM_000527.5:c.673_682delinsTGCA MANE Select NP_000518.1:p.Lys225_Glu228delinsCysLys
NM_001195798.2:c.673_682delinsTGCA NP_001182727.1:p.Lys225_Glu228delinsCysLys
NM_001195799.2:c.550_559delinsTGCA NP_001182728.1:p.Lys184_Glu187delinsCysLys
NM_001195800.2:c.314-1813_314-1804delinsTGCA NP_001182729.1:n.314-1813_314-1804delinsTGCA
NM_001195803.2:c.314-986_314-977delinsTGCA NP_001182732.1:n.314-986_314-977delinsTGCA
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