Canonical Allele Identifier: CA1139666262
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 962562
ClinVar RCV Id: RCV001236439
dbSNP Id: rs2077313770

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107475_11107485del , CM000681.2:g.11107475_11107485del GRCh38
NC_000019.9:g.11218151_11218161del , CM000681.1:g.11218151_11218161del GRCh37
NC_000019.8:g.11079151_11079161del NCBI36
NG_009060.1:g.23095_23105del , LRG_274:g.23095_23105del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1159_1169del ENSP00000252444.6:p.Asp387LeufsTer4
ENST00000559340.2:c.901_911del ENSP00000453696.2:p.Asp301LeufsTer4
ENST00000560467.2:c.901_911del ENSP00000453513.2:p.Asp301LeufsTer4
ENST00000558518.6:c.901_911del MANE Select ENSP00000454071.1:p.Asp301LeufsTer4
ENST00000252444.9:c.1155_1165del
ENST00000455727.6:c.397_407del ENSP00000397829.2:p.Asp133LeufsTer4
ENST00000535915.5:c.778_788del ENSP00000440520.1:p.Asp260LeufsTer4
ENST00000545707.5:c.520_530del ENSP00000437639.1:p.Asp174LeufsTer4
ENST00000557933.5:c.901_911del ENSP00000453557.1:p.Asp301LeufsTer4
ENST00000558013.5:c.901_911del ENSP00000453346.1:p.Asp301LeufsTer4
ENST00000558518.5:c.901_911del ENSP00000454071.1:p.Asp301LeufsTer4
ENST00000558528.1:n.416_426del
ENST00000560467.1:c.501_511del
NM_000527.4:c.901_911del , LRG_274t1:c.901_911del NP_000518.1:p.Asp301LeufsTer4
NM_001195798.1:c.901_911del NP_001182727.1:p.Asp301LeufsTer4
NM_001195799.1:c.778_788del NP_001182728.1:p.Asp260LeufsTer4
NM_001195800.1:c.397_407del NP_001182729.1:p.Asp133LeufsTer4
NM_001195803.1:c.520_530del NP_001182732.1:p.Asp174LeufsTer4
XM_011528010.1:c.901_911del XP_011526312.1:p.Asp301LeufsTer4
XM_011528011.1:c.520_530del XP_011526313.1:p.Asp174LeufsTer4
XR_244074.2:n.1051_1061del
XM_011528010.2:c.901_911del XP_011526312.1:p.Asp301LeufsTer4
XR_001753685.2:n.1018_1028del
XR_001753686.2:n.1018_1028del
NM_000527.5:c.901_911del MANE Select NP_000518.1:p.Asp301LeufsTer4
NM_001195798.2:c.901_911del NP_001182727.1:p.Asp301LeufsTer4
NM_001195799.2:c.778_788del NP_001182728.1:p.Asp260LeufsTer4
NM_001195800.2:c.397_407del NP_001182729.1:p.Asp133LeufsTer4
NM_001195803.2:c.520_530del NP_001182732.1:p.Asp174LeufsTer4