Canonical Allele Identifier: CA10585291
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251648
ClinVar RCV Id: RCV000238048
dbSNP Id: rs879254780

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111522_11111539dup , CM000681.2:g.11111522_11111539dup GRCh38
NC_000019.9:g.11222198_11222215dup , CM000681.1:g.11222198_11222215dup GRCh37
NC_000019.8:g.11083198_11083215dup NCBI36
NG_009060.1:g.27142_27159dup , LRG_274:g.27142_27159dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1327_1344dup ENSP00000252444.6:p.Asp448_Thr449insGluCy...
ENST00000559340.2:c.1069_1086dup ENSP00000453696.2:p.Asp362_Thr363insGluCy...
ENST00000560467.2:c.949_966dup ENSP00000453513.2:p.Asp322_Thr323insGluCy...
ENST00000558518.6:c.1069_1086dup MANE Select ENSP00000454071.1:p.Asp362_Thr363insGluCy...
ENST00000252444.9:c.1323_1340dup
ENST00000455727.6:c.565_582dup ENSP00000397829.2:p.Asp194_Thr195insGluCy...
ENST00000535915.5:c.946_963dup ENSP00000440520.1:p.Asp321_Thr322insGluCy...
ENST00000545707.5:c.688_705dup ENSP00000437639.1:p.Asp235_Thr236insGluCy...
ENST00000557933.5:c.1069_1086dup ENSP00000453557.1:p.Asp362_Thr363insGluCy...
ENST00000558013.5:c.1069_1086dup ENSP00000453346.1:p.Asp362_Thr363insGluCy...
ENST00000558518.5:c.1069_1086dup ENSP00000454071.1:p.Asp362_Thr363insGluCy...
ENST00000560173.1:n.68_85dup
ENST00000560467.1:c.549_566dup
NM_000527.4:c.1069_1086dup , LRG_274t1:c.1069_1086dup NP_000518.1:p.Asp362_Thr363insGluCysGlnAs...
NM_001195798.1:c.1069_1086dup NP_001182727.1:p.Asp362_Thr363insGluCysGl...
NM_001195799.1:c.946_963dup NP_001182728.1:p.Asp321_Thr322insGluCysGl...
NM_001195800.1:c.565_582dup NP_001182729.1:p.Asp194_Thr195insGluCysGl...
NM_001195803.1:c.688_705dup NP_001182732.1:p.Asp235_Thr236insGluCysGl...
XM_011528010.1:c.1069_1086dup XP_011526312.1:p.Asp362_Thr363insGluCysGl...
XM_011528011.1:c.688_705dup XP_011526313.1:p.Asp235_Thr236insGluCysGl...
XR_244074.2:n.1219_1236dup
XM_011528010.2:c.1069_1086dup XP_011526312.1:p.Asp362_Thr363insGluCysGl...
XR_001753685.2:n.1186_1203dup
XR_001753686.2:n.1186_1203dup
NM_000527.5:c.1069_1086dup MANE Select NP_000518.1:p.Asp362_Thr363insGluCysGlnAs...
NM_001195798.2:c.1069_1086dup NP_001182727.1:p.Asp362_Thr363insGluCysGl...
NM_001195799.2:c.946_963dup NP_001182728.1:p.Asp321_Thr322insGluCysGl...
NM_001195800.2:c.565_582dup NP_001182729.1:p.Asp194_Thr195insGluCysGl...
NM_001195803.2:c.688_705dup NP_001182732.1:p.Asp235_Thr236insGluCysGl...