Canonical Allele Identifier: CA10654847
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369867
dbSNP Id: rs1057516130

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107479del , CM000681.2:g.11107479del GRCh38
NC_000019.9:g.11218155del , CM000681.1:g.11218155del GRCh37
NC_000019.8:g.11079155del NCBI36
NG_009060.1:g.23099del , LRG_274:g.23099del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1163del ENSP00000252444.6:p.Cys388SerfsTer?
ENST00000559340.2:c.905del ENSP00000453696.2:p.Cys302SerfsTer?
ENST00000560467.2:c.905del ENSP00000453513.2:p.Cys302SerfsTer28
ENST00000558518.6:c.905del MANE Select ENSP00000454071.1:p.Cys302SerfsTer?
ENST00000252444.9:c.1159del
ENST00000455727.6:c.401del ENSP00000397829.2:p.Cys134SerfsTer?
ENST00000535915.5:c.782del ENSP00000440520.1:p.Cys261SerfsTer?
ENST00000545707.5:c.524del ENSP00000437639.1:p.Cys175SerfsTer?
ENST00000557933.5:c.905del ENSP00000453557.1:p.Cys302SerfsTer?
ENST00000558013.5:c.905del ENSP00000453346.1:p.Cys302SerfsTer?
ENST00000558518.5:c.905del ENSP00000454071.1:p.Cys302SerfsTer?
ENST00000558528.1:n.420del
ENST00000560467.1:c.505del
NM_000527.4:c.905del , LRG_274t1:c.905del NP_000518.1:p.Cys302SerfsTer?
NM_001195798.1:c.905del NP_001182727.1:p.Cys302SerfsTer?
NM_001195799.1:c.782del NP_001182728.1:p.Cys261SerfsTer?
NM_001195800.1:c.401del NP_001182729.1:p.Cys134SerfsTer?
NM_001195803.1:c.524del NP_001182732.1:p.Cys175SerfsTer?
XM_011528010.1:c.905del XP_011526312.1:p.Cys302SerfsTer?
XM_011528011.1:c.524del XP_011526313.1:p.Cys175SerfsTer?
XR_244074.2:n.1055del
XM_011528010.2:c.905del XP_011526312.1:p.Cys302SerfsTer?
XR_001753685.2:n.1022del
XR_001753686.2:n.1022del
NM_000527.5:c.905del MANE Select NP_000518.1:p.Cys302SerfsTer?
NM_001195798.2:c.905del NP_001182727.1:p.Cys302SerfsTer?
NM_001195799.2:c.782del NP_001182728.1:p.Cys261SerfsTer?
NM_001195800.2:c.401del NP_001182729.1:p.Cys134SerfsTer?
NM_001195803.2:c.524del NP_001182732.1:p.Cys175SerfsTer?