Canonical Allele Identifier: CA645373254
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430766
ClinVar RCV Id: RCV000495863
dbSNP Id: rs1131692201

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107434del , CM000681.2:g.11107434del GRCh38
NC_000019.9:g.11218110del , CM000681.1:g.11218110del GRCh37
NC_000019.8:g.11079110del NCBI36
NG_009060.1:g.23054del , LRG_274:g.23054del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1118del ENSP00000252444.6:p.Gly373AlafsTer?
ENST00000559340.2:c.860del ENSP00000453696.2:p.Gly287AlafsTer?
ENST00000560467.2:c.860del ENSP00000453513.2:p.Gly287AlafsTer?
ENST00000558518.6:c.860del MANE Select ENSP00000454071.1:p.Gly287AlafsTer?
ENST00000252444.9:c.1114del
ENST00000455727.6:c.356del ENSP00000397829.2:p.Gly119AlafsTer?
ENST00000535915.5:c.737del ENSP00000440520.1:p.Gly246AlafsTer?
ENST00000545707.5:c.479del ENSP00000437639.1:p.Gly160AlafsTer?
ENST00000557933.5:c.860del ENSP00000453557.1:p.Gly287AlafsTer?
ENST00000558013.5:c.860del ENSP00000453346.1:p.Gly287AlafsTer?
ENST00000558518.5:c.860del ENSP00000454071.1:p.Gly287AlafsTer?
ENST00000558528.1:n.375del
ENST00000560467.1:c.460del
NM_000527.4:c.860del , LRG_274t1:c.860del NP_000518.1:p.Gly287AlafsTer?
NM_001195798.1:c.860del NP_001182727.1:p.Gly287AlafsTer?
NM_001195799.1:c.737del NP_001182728.1:p.Gly246AlafsTer?
NM_001195800.1:c.356del NP_001182729.1:p.Gly119AlafsTer?
NM_001195803.1:c.479del NP_001182732.1:p.Gly160AlafsTer?
XM_011528010.1:c.860del XP_011526312.1:p.Gly287AlafsTer?
XM_011528011.1:c.479del XP_011526313.1:p.Gly160AlafsTer?
XR_244074.2:n.1010del
XM_011528010.2:c.860del XP_011526312.1:p.Gly287AlafsTer?
XR_001753685.2:n.977del
XR_001753686.2:n.977del
NM_000527.5:c.860del MANE Select NP_000518.1:p.Gly287AlafsTer?
NM_001195798.2:c.860del NP_001182727.1:p.Gly287AlafsTer?
NM_001195799.2:c.737del NP_001182728.1:p.Gly246AlafsTer?
NM_001195800.2:c.356del NP_001182729.1:p.Gly119AlafsTer?
NM_001195803.2:c.479del NP_001182732.1:p.Gly160AlafsTer?