Canonical Allele Identifier: CA10585237
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251584
ClinVar RCV Id: RCV000237303
dbSNP Id: rs879254748

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110691dup , CM000681.2:g.11110691dup GRCh38
NC_000019.9:g.11221367dup , CM000681.1:g.11221367dup GRCh37
NC_000019.8:g.11082367dup NCBI36
NG_009060.1:g.26311dup , LRG_274:g.26311dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1238dup ENSP00000252444.6:p.His413GlnfsTer5
ENST00000559340.2:c.980dup ENSP00000453696.2:p.His327GlnfsTer5
ENST00000560467.2:c.941-823dup ENSP00000453513.2:n.941-823dup
ENST00000558518.6:c.980dup MANE Select ENSP00000454071.1:p.His327GlnfsTer5
ENST00000252444.9:c.1234dup
ENST00000455727.6:c.476dup ENSP00000397829.2:p.His159GlnfsTer5
ENST00000535915.5:c.857dup ENSP00000440520.1:p.His286GlnfsTer5
ENST00000545707.5:c.599dup ENSP00000437639.1:p.His200GlnfsTer5
ENST00000557933.5:c.980dup ENSP00000453557.1:p.His327GlnfsTer5
ENST00000558013.5:c.980dup ENSP00000453346.1:p.His327GlnfsTer5
ENST00000558518.5:c.980dup ENSP00000454071.1:p.His327GlnfsTer5
ENST00000560467.1:c.541-823dup
NM_000527.4:c.980dup , LRG_274t1:c.980dup NP_000518.1:p.His327GlnfsTer5
NM_001195798.1:c.980dup NP_001182727.1:p.His327GlnfsTer5
NM_001195799.1:c.857dup NP_001182728.1:p.His286GlnfsTer5
NM_001195800.1:c.476dup NP_001182729.1:p.His159GlnfsTer5
NM_001195803.1:c.599dup NP_001182732.1:p.His200GlnfsTer5
XM_011528010.1:c.980dup XP_011526312.1:p.His327GlnfsTer5
XM_011528011.1:c.599dup XP_011526313.1:p.His200GlnfsTer5
XR_244074.2:n.1130dup
XM_011528010.2:c.980dup XP_011526312.1:p.His327GlnfsTer5
XR_001753685.2:n.1097dup
XR_001753686.2:n.1097dup
NM_000527.5:c.980dup MANE Select NP_000518.1:p.His327GlnfsTer5
NM_001195798.2:c.980dup NP_001182727.1:p.His327GlnfsTer5
NM_001195799.2:c.857dup NP_001182728.1:p.His286GlnfsTer5
NM_001195800.2:c.476dup NP_001182729.1:p.His159GlnfsTer5
NM_001195803.2:c.599dup NP_001182732.1:p.His200GlnfsTer5