Canonical Allele Identifier: CA023735
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 68100
dbSNP Id: rs137853966

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105559del , CM000681.2:g.11105559del GRCh38
NC_000019.9:g.11216235del , CM000681.1:g.11216235del GRCh37
NC_000019.8:g.11077235del NCBI36
NG_009060.1:g.21179del , LRG_274:g.21179del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.911del ENSP00000252444.6:p.Gly304ValfsTer?
ENST00000559340.2:c.653del ENSP00000453696.2:p.Gly218ValfsTer?
ENST00000560467.2:c.653del ENSP00000453513.2:p.Gly218ValfsTer?
ENST00000558518.6:c.653del MANE Select ENSP00000454071.1:p.Gly218ValfsTer?
ENST00000252444.9:c.907del
ENST00000455727.6:c.314-1833del ENSP00000397829.2:n.314-1833del
ENST00000535915.5:c.530del ENSP00000440520.1:p.Gly177ValfsTer?
ENST00000545707.5:c.314-1006del ENSP00000437639.1:n.314-1006del
ENST00000557933.5:c.653del ENSP00000453557.1:p.Gly218ValfsTer?
ENST00000558013.5:c.653del ENSP00000453346.1:p.Gly218ValfsTer?
ENST00000558518.5:c.653del ENSP00000454071.1:p.Gly218ValfsTer?
ENST00000560467.1:c.253del
NM_000527.4:c.653del , LRG_274t1:c.653del NP_000518.1:p.Gly218ValfsTer?
NM_001195798.1:c.653del NP_001182727.1:p.Gly218ValfsTer?
NM_001195799.1:c.530del NP_001182728.1:p.Gly177ValfsTer?
NM_001195800.1:c.314-1833del NP_001182729.1:n.314-1833del
NM_001195803.1:c.314-1006del NP_001182732.1:n.314-1006del
XM_011528010.1:c.653del XP_011526312.1:p.Gly218ValfsTer?
XM_011528011.1:c.314-1006del XP_011526313.1:n.314-1006del
XR_244074.2:n.803del
XM_011528010.2:c.653del XP_011526312.1:p.Gly218ValfsTer?
XR_001753685.2:n.770del
XR_001753686.2:n.770del
NM_000527.5:c.653del MANE Select NP_000518.1:p.Gly218ValfsTer?
NM_001195798.2:c.653del NP_001182727.1:p.Gly218ValfsTer?
NM_001195799.2:c.530del NP_001182728.1:p.Gly177ValfsTer?
NM_001195800.2:c.314-1833del NP_001182729.1:n.314-1833del
NM_001195803.2:c.314-1006del NP_001182732.1:n.314-1006del