Canonical Allele Identifier: CA915952555
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 684426
ClinVar RCV Id: RCV000999556
dbSNP Id: rs1600765031

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129523dup , CM000681.2:g.11129523dup GRCh38
NC_000019.9:g.11240199dup , CM000681.1:g.11240199dup GRCh37
NC_000019.8:g.11101199dup NCBI36
NG_009060.1:g.45143dup , LRG_274:g.45143dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2658dup ENSP00000252444.6:p.Phe887LeufsTer16
ENST00000559340.2:c.*469dup ENSP00000453696.2:n.*469dup
ENST00000560467.2:c.2280dup ENSP00000453513.2:p.Phe761LeufsTer16
ENST00000558518.6:c.2400dup MANE Select ENSP00000454071.1:p.Phe801LeufsTer16
ENST00000252444.9:c.2654dup
ENST00000455727.6:c.1896dup ENSP00000397829.2:p.Phe633LeufsTer16
ENST00000535915.5:c.2277dup ENSP00000440520.1:p.Phe760LeufsTer16
ENST00000545707.5:c.1866dup ENSP00000437639.1:p.Phe623LeufsTer16
ENST00000557933.5:c.2462dup ENSP00000453557.1:p.Ser822PhefsTer?
ENST00000558013.5:c.2400dup ENSP00000453346.1:p.Phe801LeufsTer16
ENST00000558518.5:c.2400dup ENSP00000454071.1:p.Phe801LeufsTer16
ENST00000560628.1:n.108+1869dup
NM_000527.4:c.2400dup , LRG_274t1:c.2400dup NP_000518.1:p.Phe801LeufsTer16
NM_001195798.1:c.2400dup NP_001182727.1:p.Phe801LeufsTer16
NM_001195799.1:c.2277dup NP_001182728.1:p.Phe760LeufsTer16
NM_001195800.1:c.1896dup NP_001182729.1:p.Phe633LeufsTer16
NM_001195803.1:c.1866dup NP_001182732.1:p.Phe623LeufsTer16
XM_011528010.1:c.2322dup XP_011526312.1:p.Phe775LeufsTer16
XM_011528011.1:c.2019dup XP_011526313.1:p.Phe674LeufsTer16
XR_244074.2:n.2410dup
XM_011528010.2:c.2322dup XP_011526312.1:p.Phe775LeufsTer16
XR_001753685.2:n.2734dup
XR_001753686.2:n.2377dup
NM_000527.5:c.2400dup MANE Select NP_000518.1:p.Phe801LeufsTer16
NM_001195798.2:c.2400dup NP_001182727.1:p.Phe801LeufsTer16
NM_001195799.2:c.2277dup NP_001182728.1:p.Phe760LeufsTer16
NM_001195800.2:c.1896dup NP_001182729.1:p.Phe633LeufsTer16
NM_001195803.2:c.1866dup NP_001182732.1:p.Phe623LeufsTer16