Canonical Allele Identifier: CA645373238
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431537
ClinVar RCV Id: RCV000497101
dbSNP Id: rs1135402779

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120131_11120132insA , CM000681.2:g.11120131_11120132insA GRCh38
NC_000019.9:g.11230807_11230808insA , CM000681.1:g.11230807_11230808insA GRCh37
NC_000019.8:g.11091807_11091808insA NCBI36
NG_009060.1:g.35751_35752insA , LRG_274:g.35751_35752insA

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2143_2144insA ENSP00000252444.6:p.Phe715TyrfsTer16
ENST00000559340.2:c.1745_1746insA ENSP00000453696.2:p.Phe582LeufsTer?
ENST00000560467.2:c.1765_1766insA ENSP00000453513.2:p.Phe589TyrfsTer16
ENST00000558518.6:c.1885_1886insA MANE Select ENSP00000454071.1:p.Phe629TyrfsTer16
ENST00000252444.9:c.2139_2140insA
ENST00000455727.6:c.1381_1382insA ENSP00000397829.2:p.Phe461TyrfsTer16
ENST00000535915.5:c.1762_1763insA ENSP00000440520.1:p.Phe588TyrfsTer16
ENST00000545707.5:c.1504_1505insA ENSP00000437639.1:p.Phe502TyrfsTer16
ENST00000557933.5:c.1885_1886insA ENSP00000453557.1:p.Phe629TyrfsTer16
ENST00000558013.5:c.1885_1886insA ENSP00000453346.1:p.Phe629TyrfsTer16
ENST00000558518.5:c.1885_1886insA ENSP00000454071.1:p.Phe629TyrfsTer16
ENST00000559340.1:c.466_467insA
NM_000527.4:c.1885_1886insA , LRG_274t1:c.1885_1886insA NP_000518.1:p.Phe629TyrfsTer16
NM_001195798.1:c.1885_1886insA NP_001182727.1:p.Phe629TyrfsTer16
NM_001195799.1:c.1762_1763insA NP_001182728.1:p.Phe588TyrfsTer16
NM_001195800.1:c.1381_1382insA NP_001182729.1:p.Phe461TyrfsTer16
NM_001195803.1:c.1504_1505insA NP_001182732.1:p.Phe502TyrfsTer16
XM_011528010.1:c.1885_1886insA XP_011526312.1:p.Phe629TyrfsTer16
XM_011528011.1:c.1504_1505insA XP_011526313.1:p.Phe502TyrfsTer16
XR_244074.2:n.1895_1896insA
XM_011528010.2:c.1885_1886insA XP_011526312.1:p.Phe629TyrfsTer16
XR_001753685.2:n.2002_2003insA
XR_001753686.2:n.1862_1863insA
NM_000527.5:c.1885_1886insA MANE Select NP_000518.1:p.Phe629TyrfsTer16
NM_001195798.2:c.1885_1886insA NP_001182727.1:p.Phe629TyrfsTer16
NM_001195799.2:c.1762_1763insA NP_001182728.1:p.Phe588TyrfsTer16
NM_001195800.2:c.1381_1382insA NP_001182729.1:p.Phe461TyrfsTer16
NM_001195803.2:c.1504_1505insA NP_001182732.1:p.Phe502TyrfsTer16