Canonical Allele Identifier: CA1139666268
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 924687
ClinVar RCV Id: RCV001186165
dbSNP Id: rs2077364942
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110781_11110782delinsCA , CM000681.2:g.11110781_11110782delinsCA GRCh38
NC_000019.9:g.11221457_11221458delinsCA , CM000681.1:g.11221457_11221458delinsCA GRCh37
NC_000019.8:g.11082457_11082458delinsCA NCBI36
NG_009060.1:g.26401_26402delinsCA , LRG_274:g.26401_26402delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1318+10_1318+11delinsCA ENSP00000252444.6:n.1318+10_1318+11delinsCA
ENST00000559340.2:c.1060+10_1060+11delinsCA ENSP00000453696.2:n.1060+10_1060+11delinsCA
ENST00000560467.2:c.941-733_941-732delinsCA ENSP00000453513.2:n.941-733_941-732delinsCA
ENST00000558518.6:c.1060+10_1060+11delinsCA MANE Select ENSP00000454071.1:n.1060+10_1060+11delinsCA
ENST00000252444.9:c.1314+10_1314+11delinsCA
ENST00000455727.6:c.556+10_556+11delinsCA ENSP00000397829.2:n.556+10_556+11delinsCA
ENST00000535915.5:c.937+10_937+11delinsCA ENSP00000440520.1:n.937+10_937+11delinsCA
ENST00000545707.5:c.679+10_679+11delinsCA ENSP00000437639.1:n.679+10_679+11delinsCA
ENST00000557933.5:c.1060+10_1060+11delinsCA ENSP00000453557.1:n.1060+10_1060+11delinsCA
ENST00000558013.5:c.1060+10_1060+11delinsCA ENSP00000453346.1:n.1060+10_1060+11delinsCA
ENST00000558518.5:c.1060+10_1060+11delinsCA ENSP00000454071.1:n.1060+10_1060+11delinsCA
ENST00000560173.1:n.59+10_59+11delinsCA
ENST00000560467.1:c.541-733_541-732delinsCA
NM_000527.4:c.1060+10_1060+11delinsCA , LRG_274t1:c.1060+10_1060+11delinsCA NP_000518.1:n.1060+10_1060+11delinsCA
NM_001195798.1:c.1060+10_1060+11delinsCA NP_001182727.1:n.1060+10_1060+11delinsCA
NM_001195799.1:c.937+10_937+11delinsCA NP_001182728.1:n.937+10_937+11delinsCA
NM_001195800.1:c.556+10_556+11delinsCA NP_001182729.1:n.556+10_556+11delinsCA
NM_001195803.1:c.679+10_679+11delinsCA NP_001182732.1:n.679+10_679+11delinsCA
XM_011528010.1:c.1060+10_1060+11delinsCA XP_011526312.1:n.1060+10_1060+11delinsCA
XM_011528011.1:c.679+10_679+11delinsCA XP_011526313.1:n.679+10_679+11delinsCA
XR_244074.2:n.1210+10_1210+11delinsCA
XM_011528010.2:c.1060+10_1060+11delinsCA XP_011526312.1:n.1060+10_1060+11delinsCA
XR_001753685.2:n.1177+10_1177+11delinsCA
XR_001753686.2:n.1177+10_1177+11delinsCA
NM_000527.5:c.1060+10_1060+11delinsCA MANE Select NP_000518.1:n.1060+10_1060+11delinsCA
NM_001195798.2:c.1060+10_1060+11delinsCA NP_001182727.1:n.1060+10_1060+11delinsCA
NM_001195799.2:c.937+10_937+11delinsCA NP_001182728.1:n.937+10_937+11delinsCA
NM_001195800.2:c.556+10_556+11delinsCA NP_001182729.1:n.556+10_556+11delinsCA
NM_001195803.2:c.679+10_679+11delinsCA NP_001182732.1:n.679+10_679+11delinsCA
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