Canonical Allele Identifier: CA2825002703
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3070615
ClinVar RCV Id: RCV004013125

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123292_11123297del , CM000681.2:g.11123292_11123297del GRCh38
NC_000019.9:g.11233968_11233973del , CM000681.1:g.11233968_11233973del GRCh37
NC_000019.8:g.11094968_11094973del NCBI36
NG_009060.1:g.38912_38917del , LRG_274:g.38912_38917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2517_2522del ENSP00000252444.6:p.Gly840_Ala841del
ENST00000559340.2:c.*328_*333del ENSP00000453696.2:n.*328_*333del
ENST00000560467.2:c.2139_2144del ENSP00000453513.2:p.Gly714_Ala715del
ENST00000558518.6:c.2259_2264del MANE Select ENSP00000454071.1:p.Gly754_Ala755del
ENST00000252444.9:c.2513_2518del
ENST00000455727.6:c.1755_1760del ENSP00000397829.2:p.Gly586_Ala587del
ENST00000535915.5:c.2136_2141del ENSP00000440520.1:p.Gly713_Ala714del
ENST00000545707.5:c.1725_1730del ENSP00000437639.1:p.Gly576_Ala577del
ENST00000557933.5:c.2259_2264del ENSP00000453557.1:p.Gly754_Ala755del
ENST00000558013.5:c.2259_2264del ENSP00000453346.1:p.Gly754_Ala755del
ENST00000558518.5:c.2259_2264del ENSP00000454071.1:p.Gly754_Ala755del
NM_000527.4:c.2259_2264del , LRG_274t1:c.2259_2264del NP_000518.1:p.Gly754_Ala755del
NM_001195798.1:c.2259_2264del NP_001182727.1:p.Gly754_Ala755del
NM_001195799.1:c.2136_2141del NP_001182728.1:p.Gly713_Ala714del
NM_001195800.1:c.1755_1760del NP_001182729.1:p.Gly586_Ala587del
NM_001195803.1:c.1725_1730del NP_001182732.1:p.Gly576_Ala577del
XM_011528010.1:c.2259_2264del XP_011526312.1:p.Gly754_Ala755del
XM_011528011.1:c.1878_1883del XP_011526313.1:p.Gly627_Ala628del
XR_244074.2:n.2269_2274del
XM_011528010.2:c.2259_2264del XP_011526312.1:p.Gly754_Ala755del
XR_001753685.2:n.2593_2598del
XR_001753686.2:n.2236_2241del
NM_000527.5:c.2259_2264del MANE Select NP_000518.1:p.Gly754_Ala755del
NM_001195798.2:c.2259_2264del NP_001182727.1:p.Gly754_Ala755del
NM_001195799.2:c.2136_2141del NP_001182728.1:p.Gly713_Ala714del
NM_001195800.2:c.1755_1760del NP_001182729.1:p.Gly586_Ala587del
NM_001195803.2:c.1725_1730del NP_001182732.1:p.Gly576_Ala577del