Canonical Allele Identifier: CA2573156036
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1454247
ClinVar RCV Id: RCV001941772
dbSNP Id: rs2147266606

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120510_11120513dup , CM000681.2:g.11120510_11120513dup GRCh38
NC_000019.9:g.11231186_11231189dup , CM000681.1:g.11231186_11231189dup GRCh37
NC_000019.8:g.11092186_11092189dup NCBI36
NG_009060.1:g.36130_36133dup , LRG_274:g.36130_36133dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2386_2389dup ENSP00000252444.6:p.Cys797Ter
ENST00000559340.2:c.*197_*200dup ENSP00000453696.2:n.*197_*200dup
ENST00000560467.2:c.2008_2011dup ENSP00000453513.2:p.Cys671Ter
ENST00000558518.6:c.2128_2131dup MANE Select ENSP00000454071.1:p.Cys711Ter
ENST00000252444.9:c.2382_2385dup
ENST00000455727.6:c.1624_1627dup ENSP00000397829.2:p.Cys543Ter
ENST00000535915.5:c.2005_2008dup ENSP00000440520.1:p.Cys670Ter
ENST00000545707.5:c.1606+277_1606+280dup ENSP00000437639.1:n.1606+277_1606+280dup
ENST00000557933.5:c.2128_2131dup ENSP00000453557.1:p.Cys711Ter
ENST00000558013.5:c.2128_2131dup ENSP00000453346.1:p.Cys711Ter
ENST00000558518.5:c.2128_2131dup ENSP00000454071.1:p.Cys711Ter
NM_000527.4:c.2128_2131dup , LRG_274t1:c.2128_2131dup NP_000518.1:p.Cys711Ter
NM_001195798.1:c.2128_2131dup NP_001182727.1:p.Cys711Ter
NM_001195799.1:c.2005_2008dup NP_001182728.1:p.Cys670Ter
NM_001195800.1:c.1624_1627dup NP_001182729.1:p.Cys543Ter
NM_001195803.1:c.1606+277_1606+280dup NP_001182732.1:n.1606+277_1606+280dup
XM_011528010.1:c.2128_2131dup XP_011526312.1:p.Cys711Ter
XM_011528011.1:c.1747_1750dup XP_011526313.1:p.Cys584Ter
XR_244074.2:n.2138_2141dup
XM_011528010.2:c.2128_2131dup XP_011526312.1:p.Cys711Ter
XR_001753685.2:n.2245_2248dup
XR_001753686.2:n.2105_2108dup
NM_000527.5:c.2128_2131dup MANE Select NP_000518.1:p.Cys711Ter
NM_001195798.2:c.2128_2131dup NP_001182727.1:p.Cys711Ter
NM_001195799.2:c.2005_2008dup NP_001182728.1:p.Cys670Ter
NM_001195800.2:c.1624_1627dup NP_001182729.1:p.Cys543Ter
NM_001195803.2:c.1606+277_1606+280dup NP_001182732.1:n.1606+277_1606+280dup