Canonical Allele Identifier: CA658653706
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441191
ClinVar RCV Id: RCV000509177
dbSNP Id: rs879254641
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105588delinsTCAAGGAAACCCGACTGCA , CM000681.2:g.11105588delinsTCAAGGAAACCCGACTGCA GRCh38
NC_000019.9:g.11216264delinsTCAAGGAAACCCGACTGCA , CM000681.1:g.11216264delinsTCAAGGAAACCCGACTGCA GRCh37
NC_000019.8:g.11077264delinsTCAAGGAAACCCGACTGCA NCBI36
NG_009060.1:g.21208delinsTCAAGGAAACCCGACTGCA , LRG_274:g.21208delinsTCAAGGAAACCCGACTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.940delinsTCAAGGAAACCCGACTGCA ENSP00000252444.6:p.Glu314delinsSerArgLysProAspCysLys
ENST00000559340.2:c.682delinsTCAAGGAAACCCGACTGCA ENSP00000453696.2:p.Glu228delinsSerArgLysProAspCysLys
ENST00000560467.2:c.682delinsTCAAGGAAACCCGACTGCA ENSP00000453513.2:p.Glu228delinsSerArgLysProAspCysLys
ENST00000558518.6:c.682delinsTCAAGGAAACCCGACTGCA MANE Select ENSP00000454071.1:p.Glu228delinsSerArgLysProAspCysLys
ENST00000252444.9:c.936delinsTCAAGGAAACCCGACTGCA
ENST00000455727.6:c.314-1804delinsTCAAGGAAACCCGACTGCA ENSP00000397829.2:n.314-1804delinsTCAAGGAAACCCGACTGCA
ENST00000535915.5:c.559delinsTCAAGGAAACCCGACTGCA ENSP00000440520.1:p.Glu187delinsSerArgLysProAspCysLys
ENST00000545707.5:c.314-977delinsTCAAGGAAACCCGACTGCA ENSP00000437639.1:n.314-977delinsTCAAGGAAACCCGACTGCA
ENST00000557933.5:c.682delinsTCAAGGAAACCCGACTGCA ENSP00000453557.1:p.Glu228delinsSerArgLysProAspCysLys
ENST00000558013.5:c.682delinsTCAAGGAAACCCGACTGCA ENSP00000453346.1:p.Glu228delinsSerArgLysProAspCysLys
ENST00000558518.5:c.682delinsTCAAGGAAACCCGACTGCA ENSP00000454071.1:p.Glu228delinsSerArgLysProAspCysLys
ENST00000560467.1:c.282delinsTCAAGGAAACCCGACTGCA
NM_000527.4:c.682delinsTCAAGGAAACCCGACTGCA , LRG_274t1:c.682delinsTCAAGGAAACCCGACTGCA NP_000518.1:p.Glu228delinsSerArgLysProAspCysLys
NM_001195798.1:c.682delinsTCAAGGAAACCCGACTGCA NP_001182727.1:p.Glu228delinsSerArgLysProAspCysLys
NM_001195799.1:c.559delinsTCAAGGAAACCCGACTGCA NP_001182728.1:p.Glu187delinsSerArgLysProAspCysLys
NM_001195800.1:c.314-1804delinsTCAAGGAAACCCGACTGCA NP_001182729.1:n.314-1804delinsTCAAGGAAACCCGACTGCA
NM_001195803.1:c.314-977delinsTCAAGGAAACCCGACTGCA NP_001182732.1:n.314-977delinsTCAAGGAAACCCGACTGCA
XM_011528010.1:c.682delinsTCAAGGAAACCCGACTGCA XP_011526312.1:p.Glu228delinsSerArgLysProAspCysLys
XM_011528011.1:c.314-977delinsTCAAGGAAACCCGACTGCA XP_011526313.1:n.314-977delinsTCAAGGAAACCCGACTGCA
XR_244074.2:n.832delinsTCAAGGAAACCCGACTGCA
XM_011528010.2:c.682delinsTCAAGGAAACCCGACTGCA XP_011526312.1:p.Glu228delinsSerArgLysProAspCysLys
XR_001753685.2:n.799delinsTCAAGGAAACCCGACTGCA
XR_001753686.2:n.799delinsTCAAGGAAACCCGACTGCA
NM_000527.5:c.682delinsTCAAGGAAACCCGACTGCA MANE Select NP_000518.1:p.Glu228delinsSerArgLysProAspCysLys
NM_001195798.2:c.682delinsTCAAGGAAACCCGACTGCA NP_001182727.1:p.Glu228delinsSerArgLysProAspCysLys
NM_001195799.2:c.559delinsTCAAGGAAACCCGACTGCA NP_001182728.1:p.Glu187delinsSerArgLysProAspCysLys
NM_001195800.2:c.314-1804delinsTCAAGGAAACCCGACTGCA NP_001182729.1:n.314-1804delinsTCAAGGAAACCCGACTGCA
NM_001195803.2:c.314-977delinsTCAAGGAAACCCGACTGCA NP_001182732.1:n.314-977delinsTCAAGGAAACCCGACTGCA
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