Canonical Allele Identifier: CA10584966
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251274
dbSNP Id: rs879254559

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105424del , CM000681.2:g.11105424del GRCh38
NC_000019.9:g.11216100del , CM000681.1:g.11216100del GRCh37
NC_000019.8:g.11077100del NCBI36
NG_009060.1:g.21044del , LRG_274:g.21044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.776del ENSP00000252444.6:p.Cys259SerfsTer?
ENST00000559340.2:c.518del ENSP00000453696.2:p.Cys173SerfsTer?
ENST00000560467.2:c.518del ENSP00000453513.2:p.Cys173SerfsTer?
ENST00000558518.6:c.518del MANE Select ENSP00000454071.1:p.Cys173SerfsTer?
ENST00000252444.9:c.772del
ENST00000455727.6:c.314-1968del ENSP00000397829.2:n.314-1968del
ENST00000535915.5:c.395del ENSP00000440520.1:p.Cys132SerfsTer?
ENST00000545707.5:c.314-1141del ENSP00000437639.1:n.314-1141del
ENST00000557933.5:c.518del ENSP00000453557.1:p.Cys173SerfsTer?
ENST00000558013.5:c.518del ENSP00000453346.1:p.Cys173SerfsTer?
ENST00000558518.5:c.518del ENSP00000454071.1:p.Cys173SerfsTer?
ENST00000560467.1:c.118del
NM_000527.4:c.518del , LRG_274t1:c.518del NP_000518.1:p.Cys173SerfsTer?
NM_001195798.1:c.518del NP_001182727.1:p.Cys173SerfsTer?
NM_001195799.1:c.395del NP_001182728.1:p.Cys132SerfsTer?
NM_001195800.1:c.314-1968del NP_001182729.1:n.314-1968del
NM_001195803.1:c.314-1141del NP_001182732.1:n.314-1141del
XM_011528010.1:c.518del XP_011526312.1:p.Cys173SerfsTer?
XM_011528011.1:c.314-1141del XP_011526313.1:n.314-1141del
XR_244074.2:n.668del
XM_011528010.2:c.518del XP_011526312.1:p.Cys173SerfsTer?
XR_001753685.2:n.635del
XR_001753686.2:n.635del
NM_000527.5:c.518del MANE Select NP_000518.1:p.Cys173SerfsTer?
NM_001195798.2:c.518del NP_001182727.1:p.Cys173SerfsTer?
NM_001195799.2:c.395del NP_001182728.1:p.Cys132SerfsTer?
NM_001195800.2:c.314-1968del NP_001182729.1:n.314-1968del
NM_001195803.2:c.314-1141del NP_001182732.1:n.314-1141del