Canonical Allele Identifier: CA1139666257
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 960667
ClinVar RCV Id: RCV001234236
dbSNP Id: rs2077300688

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106661del , CM000681.2:g.11106661del GRCh38
NC_000019.9:g.11217337del , CM000681.1:g.11217337del GRCh37
NC_000019.8:g.11078337del NCBI36
NG_009060.1:g.22281del , LRG_274:g.22281del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1049del ENSP00000252444.6:p.Met350ArgfsTer10
ENST00000559340.2:c.791del ENSP00000453696.2:p.Met264ArgfsTer10
ENST00000560467.2:c.791del ENSP00000453513.2:p.Met264ArgfsTer10
ENST00000558518.6:c.791del MANE Select ENSP00000454071.1:p.Met264ArgfsTer10
ENST00000252444.9:c.1045del
ENST00000455727.6:c.314-731del ENSP00000397829.2:n.314-731del
ENST00000535915.5:c.668del ENSP00000440520.1:p.Met223ArgfsTer10
ENST00000545707.5:c.410del ENSP00000437639.1:p.Met137ArgfsTer10
ENST00000557933.5:c.791del ENSP00000453557.1:p.Met264ArgfsTer10
ENST00000558013.5:c.791del ENSP00000453346.1:p.Met264ArgfsTer10
ENST00000558518.5:c.791del ENSP00000454071.1:p.Met264ArgfsTer10
ENST00000558528.1:n.306del
ENST00000560467.1:c.391del
NM_000527.4:c.791del , LRG_274t1:c.791del NP_000518.1:p.Met264ArgfsTer10
NM_001195798.1:c.791del NP_001182727.1:p.Met264ArgfsTer10
NM_001195799.1:c.668del NP_001182728.1:p.Met223ArgfsTer10
NM_001195800.1:c.314-731del NP_001182729.1:n.314-731del
NM_001195803.1:c.410del NP_001182732.1:p.Met137ArgfsTer10
XM_011528010.1:c.791del XP_011526312.1:p.Met264ArgfsTer10
XM_011528011.1:c.410del XP_011526313.1:p.Met137ArgfsTer10
XR_244074.2:n.941del
XM_011528010.2:c.791del XP_011526312.1:p.Met264ArgfsTer10
XR_001753685.2:n.908del
XR_001753686.2:n.908del
NM_000527.5:c.791del MANE Select NP_000518.1:p.Met264ArgfsTer10
NM_001195798.2:c.791del NP_001182727.1:p.Met264ArgfsTer10
NM_001195799.2:c.668del NP_001182728.1:p.Met223ArgfsTer10
NM_001195800.2:c.314-731del NP_001182729.1:n.314-731del
NM_001195803.2:c.410del NP_001182732.1:p.Met137ArgfsTer10