Canonical Allele Identifier: CA10585224
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251569
dbSNP Id: rs879254737

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110662del , CM000681.2:g.11110662del GRCh38
NC_000019.9:g.11221338del , CM000681.1:g.11221338del GRCh37
NC_000019.8:g.11082338del NCBI36
NG_009060.1:g.26282del , LRG_274:g.26282del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1209del ENSP00000252444.6:p.Glu403AspfsTer?
ENST00000559340.2:c.951del ENSP00000453696.2:p.Glu317AspfsTer?
ENST00000560467.2:c.941-852del ENSP00000453513.2:n.941-852del
ENST00000558518.6:c.951del MANE Select ENSP00000454071.1:p.Glu317AspfsTer?
ENST00000252444.9:c.1205del
ENST00000455727.6:c.447del ENSP00000397829.2:p.Glu149AspfsTer?
ENST00000535915.5:c.828del ENSP00000440520.1:p.Glu276AspfsTer?
ENST00000545707.5:c.570del ENSP00000437639.1:p.Glu190AspfsTer?
ENST00000557933.5:c.951del ENSP00000453557.1:p.Glu317AspfsTer?
ENST00000558013.5:c.951del ENSP00000453346.1:p.Glu317AspfsTer?
ENST00000558518.5:c.951del ENSP00000454071.1:p.Glu317AspfsTer?
ENST00000560467.1:c.541-852del
NM_000527.4:c.951del , LRG_274t1:c.951del NP_000518.1:p.Glu317AspfsTer?
NM_001195798.1:c.951del NP_001182727.1:p.Glu317AspfsTer?
NM_001195799.1:c.828del NP_001182728.1:p.Glu276AspfsTer?
NM_001195800.1:c.447del NP_001182729.1:p.Glu149AspfsTer?
NM_001195803.1:c.570del NP_001182732.1:p.Glu190AspfsTer?
XM_011528010.1:c.951del XP_011526312.1:p.Glu317AspfsTer?
XM_011528011.1:c.570del XP_011526313.1:p.Glu190AspfsTer?
XR_244074.2:n.1101del
XM_011528010.2:c.951del XP_011526312.1:p.Glu317AspfsTer?
XR_001753685.2:n.1068del
XR_001753686.2:n.1068del
NM_000527.5:c.951del MANE Select NP_000518.1:p.Glu317AspfsTer?
NM_001195798.2:c.951del NP_001182727.1:p.Glu317AspfsTer?
NM_001195799.2:c.828del NP_001182728.1:p.Glu276AspfsTer?
NM_001195800.2:c.447del NP_001182729.1:p.Glu149AspfsTer?
NM_001195803.2:c.570del NP_001182732.1:p.Glu190AspfsTer?