Canonical Allele Identifier: CA645373262
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431520
ClinVar RCV Id: RCV000497150
dbSNP Id: rs1135402771

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110720_11110725del , CM000681.2:g.11110720_11110725del GRCh38
NC_000019.9:g.11221396_11221401del , CM000681.1:g.11221396_11221401del GRCh37
NC_000019.8:g.11082396_11082401del NCBI36
NG_009060.1:g.26340_26345del , LRG_274:g.26340_26345del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1267_1272del ENSP00000252444.6:p.Glu423_Cys424del
ENST00000559340.2:c.1009_1014del ENSP00000453696.2:p.Glu337_Cys338del
ENST00000560467.2:c.941-794_941-789del ENSP00000453513.2:n.941-794_941-789del
ENST00000558518.6:c.1009_1014del MANE Select ENSP00000454071.1:p.Glu337_Cys338del
ENST00000252444.9:c.1263_1268del
ENST00000455727.6:c.505_510del ENSP00000397829.2:p.Glu169_Cys170del
ENST00000535915.5:c.886_891del ENSP00000440520.1:p.Glu296_Cys297del
ENST00000545707.5:c.628_633del ENSP00000437639.1:p.Glu210_Cys211del
ENST00000557933.5:c.1009_1014del ENSP00000453557.1:p.Glu337_Cys338del
ENST00000558013.5:c.1009_1014del ENSP00000453346.1:p.Glu337_Cys338del
ENST00000558518.5:c.1009_1014del ENSP00000454071.1:p.Glu337_Cys338del
ENST00000560173.1:n.8_13del
ENST00000560467.1:c.541-794_541-789del
NM_000527.4:c.1009_1014del , LRG_274t1:c.1009_1014del NP_000518.1:p.Glu337_Cys338del
NM_001195798.1:c.1009_1014del NP_001182727.1:p.Glu337_Cys338del
NM_001195799.1:c.886_891del NP_001182728.1:p.Glu296_Cys297del
NM_001195800.1:c.505_510del NP_001182729.1:p.Glu169_Cys170del
NM_001195803.1:c.628_633del NP_001182732.1:p.Glu210_Cys211del
XM_011528010.1:c.1009_1014del XP_011526312.1:p.Glu337_Cys338del
XM_011528011.1:c.628_633del XP_011526313.1:p.Glu210_Cys211del
XR_244074.2:n.1159_1164del
XM_011528010.2:c.1009_1014del XP_011526312.1:p.Glu337_Cys338del
XR_001753685.2:n.1126_1131del
XR_001753686.2:n.1126_1131del
NM_000527.5:c.1009_1014del MANE Select NP_000518.1:p.Glu337_Cys338del
NM_001195798.2:c.1009_1014del NP_001182727.1:p.Glu337_Cys338del
NM_001195799.2:c.886_891del NP_001182728.1:p.Glu296_Cys297del
NM_001195800.2:c.505_510del NP_001182729.1:p.Glu169_Cys170del
NM_001195803.2:c.628_633del NP_001182732.1:p.Glu210_Cys211del