Canonical Allele Identifier: CA658824570
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 548089
ClinVar RCV Id: RCV000660728
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110651_11110772dup , CM000681.2:g.11110651_11110772dup GRCh38
NC_000019.9:g.11221327_11221448dup , CM000681.1:g.11221327_11221448dup GRCh37
NC_000019.8:g.11082327_11082448dup NCBI36
NG_009060.1:g.26271_26392dup , LRG_274:g.26271_26392dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1199-1_1318+1dup
ENST00000559340.2:c.941-1_1060+1dup
ENST00000560467.2:c.941-863_941-742dup ENSP00000453513.2:n.941-863_941-742dup
ENST00000558518.6:c.941-1_1060+1dup
ENST00000252444.9:c.1195-1_1314+1dup
ENST00000455727.6:c.437-1_556+1dup
ENST00000535915.5:c.818-1_937+1dup
ENST00000545707.5:c.560-1_679+1dup
ENST00000557933.5:c.941-1_1060+1dup
ENST00000558013.5:c.941-1_1060+1dup
ENST00000558518.5:c.941-1_1060+1dup
ENST00000560467.1:c.541-863_541-742dup
NM_000527.4:c.941-1_1060+1dup , LRG_274t1:c.941-1_1060+1dup
NM_001195798.1:c.941-1_1060+1dup
NM_001195799.1:c.818-1_937+1dup
NM_001195800.1:c.437-1_556+1dup
NM_001195803.1:c.560-1_679+1dup
XM_011528010.1:c.941-1_1060+1dup
XM_011528011.1:c.560-1_679+1dup
XR_244074.2:n.1091-1_1210+1dup
XM_011528010.2:c.941-1_1060+1dup
XR_001753685.2:n.1058-1_1177+1dup
XR_001753686.2:n.1058-1_1177+1dup
NM_000527.5:c.941-1_1060+1dup
NM_001195798.2:c.941-1_1060+1dup
NM_001195799.2:c.818-1_937+1dup
NM_001195800.2:c.437-1_556+1dup
NM_001195803.2:c.560-1_679+1dup
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