Canonical Allele Identifier: CA645373247
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430773
dbSNP Id: rs1131692205

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111583del , CM000681.2:g.11111583del GRCh38
NC_000019.9:g.11222259del , CM000681.1:g.11222259del GRCh37
NC_000019.8:g.11083259del NCBI36
NG_009060.1:g.27203del , LRG_274:g.27203del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1388del ENSP00000252444.6:p.Cys463SerfsTer?
ENST00000559340.2:c.1130del ENSP00000453696.2:p.Cys377SerfsTer?
ENST00000560467.2:c.1010del ENSP00000453513.2:p.Cys337SerfsTer?
ENST00000558518.6:c.1130del MANE Select ENSP00000454071.1:p.Cys377SerfsTer?
ENST00000252444.9:c.1384del
ENST00000455727.6:c.626del ENSP00000397829.2:p.Cys209SerfsTer?
ENST00000535915.5:c.1007del ENSP00000440520.1:p.Cys336SerfsTer?
ENST00000545707.5:c.749del ENSP00000437639.1:p.Cys250SerfsTer?
ENST00000557933.5:c.1130del ENSP00000453557.1:p.Cys377SerfsTer?
ENST00000558013.5:c.1130del ENSP00000453346.1:p.Cys377SerfsTer?
ENST00000558518.5:c.1130del ENSP00000454071.1:p.Cys377SerfsTer?
ENST00000560173.1:n.129del
ENST00000560467.1:c.610del
NM_000527.4:c.1130del , LRG_274t1:c.1130del NP_000518.1:p.Cys377SerfsTer?
NM_001195798.1:c.1130del NP_001182727.1:p.Cys377SerfsTer?
NM_001195799.1:c.1007del NP_001182728.1:p.Cys336SerfsTer?
NM_001195800.1:c.626del NP_001182729.1:p.Cys209SerfsTer?
NM_001195803.1:c.749del NP_001182732.1:p.Cys250SerfsTer?
XM_011528010.1:c.1130del XP_011526312.1:p.Cys377SerfsTer?
XM_011528011.1:c.749del XP_011526313.1:p.Cys250SerfsTer?
XR_244074.2:n.1280del
XM_011528010.2:c.1130del XP_011526312.1:p.Cys377SerfsTer?
XR_001753685.2:n.1247del
XR_001753686.2:n.1247del
NM_000527.5:c.1130del MANE Select NP_000518.1:p.Cys377SerfsTer?
NM_001195798.2:c.1130del NP_001182727.1:p.Cys377SerfsTer?
NM_001195799.2:c.1007del NP_001182728.1:p.Cys336SerfsTer?
NM_001195800.2:c.626del NP_001182729.1:p.Cys209SerfsTer?
NM_001195803.2:c.749del NP_001182732.1:p.Cys250SerfsTer?