Canonical Allele Identifier: CA645509302
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440695
ClinVar RCV Id: RCV000508952
dbSNP Id: rs1555809520

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129545_11129548del , CM000681.2:g.11129545_11129548del GRCh38
NC_000019.9:g.11240221_11240224del , CM000681.1:g.11240221_11240224del GRCh37
NC_000019.8:g.11101221_11101224del NCBI36
NG_009060.1:g.45165_45168del , LRG_274:g.45165_45168del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2680_2683del ENSP00000252444.6:p.Leu894TyrfsTer?
ENST00000559340.2:c.*491_*494del ENSP00000453696.2:n.*491_*494del
ENST00000560467.2:c.2302_2305del ENSP00000453513.2:p.Leu768TyrfsTer?
ENST00000558518.6:c.2422_2425del MANE Select ENSP00000454071.1:p.Leu808TyrfsTer?
ENST00000252444.9:c.2676_2679del
ENST00000455727.6:c.1918_1921del ENSP00000397829.2:p.Leu640TyrfsTer?
ENST00000535915.5:c.2299_2302del ENSP00000440520.1:p.Leu767TyrfsTer?
ENST00000545707.5:c.1888_1891del ENSP00000437639.1:p.Leu630TyrfsTer?
ENST00000557933.5:c.2484_2487del ENSP00000453557.1:p.Phe829MetfsTer7
ENST00000558013.5:c.2422_2425del ENSP00000453346.1:p.Leu808TyrfsTer?
ENST00000558518.5:c.2422_2425del ENSP00000454071.1:p.Leu808TyrfsTer?
ENST00000560628.1:n.108+1891_108+1894del
NM_000527.4:c.2422_2425del , LRG_274t1:c.2422_2425del NP_000518.1:p.Leu808TyrfsTer?
NM_001195798.1:c.2422_2425del NP_001182727.1:p.Leu808TyrfsTer?
NM_001195799.1:c.2299_2302del NP_001182728.1:p.Leu767TyrfsTer?
NM_001195800.1:c.1918_1921del NP_001182729.1:p.Leu640TyrfsTer?
NM_001195803.1:c.1888_1891del NP_001182732.1:p.Leu630TyrfsTer?
XM_011528010.1:c.2344_2347del XP_011526312.1:p.Leu782TyrfsTer?
XM_011528011.1:c.2041_2044del XP_011526313.1:p.Leu681TyrfsTer?
XR_244074.2:n.2432_2435del
XM_011528010.2:c.2344_2347del XP_011526312.1:p.Leu782TyrfsTer?
XR_001753685.2:n.2756_2759del
XR_001753686.2:n.2399_2402del
NM_000527.5:c.2422_2425del MANE Select NP_000518.1:p.Leu808TyrfsTer?
NM_001195798.2:c.2422_2425del NP_001182727.1:p.Leu808TyrfsTer?
NM_001195799.2:c.2299_2302del NP_001182728.1:p.Leu767TyrfsTer?
NM_001195800.2:c.1918_1921del NP_001182729.1:p.Leu640TyrfsTer?
NM_001195803.2:c.1888_1891del NP_001182732.1:p.Leu630TyrfsTer?