Canonical Allele Identifier: CA2697556237
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2773491
ClinVar RCV Id: RCV003582091
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100241del , CM000681.2:g.11100241del GRCh38
NC_000019.9:g.11210917del , CM000681.1:g.11210917del GRCh37
NC_000019.8:g.11071917del NCBI36
NG_009060.1:g.15861del , LRG_274:g.15861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.344del ENSP00000252444.6:p.Arg115LysfsTer?
ENST00000559340.2:c.86del ENSP00000453696.2:p.Arg29LysfsTer?
ENST00000560467.2:c.86del ENSP00000453513.2:p.Arg29LysfsTer?
ENST00000558518.6:c.86del MANE Select ENSP00000454071.1:p.Arg29LysfsTer?
ENST00000252444.9:c.340del
ENST00000455727.6:c.86del ENSP00000397829.2:p.Arg29LysfsTer?
ENST00000535915.5:c.86del ENSP00000440520.1:p.Arg29LysfsTer?
ENST00000545707.5:c.86del ENSP00000437639.1:p.Arg29LysfsTer?
ENST00000557933.5:c.86del ENSP00000453557.1:p.Arg29LysfsTer?
ENST00000557958.1:n.172del
ENST00000558013.5:c.86del ENSP00000453346.1:p.Arg29LysfsTer?
ENST00000558518.5:c.86del ENSP00000454071.1:p.Arg29LysfsTer?
ENST00000560502.5:n.172del
NM_000527.4:c.86del , LRG_274t1:c.86del NP_000518.1:p.Arg29LysfsTer?
NM_001195798.1:c.86del NP_001182727.1:p.Arg29LysfsTer?
NM_001195799.1:c.86del NP_001182728.1:p.Arg29LysfsTer?
NM_001195800.1:c.86del NP_001182729.1:p.Arg29LysfsTer?
NM_001195803.1:c.86del NP_001182732.1:p.Arg29LysfsTer?
XM_011528010.1:c.86del XP_011526312.1:p.Arg29LysfsTer?
XM_011528011.1:c.86del XP_011526313.1:p.Arg29LysfsTer?
XR_244074.2:n.236del
XM_011528010.2:c.86del XP_011526312.1:p.Arg29LysfsTer?
XR_001753685.2:n.203del
XR_001753686.2:n.203del
NM_000527.5:c.86del MANE Select NP_000518.1:p.Arg29LysfsTer?
NM_001195798.2:c.86del NP_001182727.1:p.Arg29LysfsTer?
NM_001195799.2:c.86del NP_001182728.1:p.Arg29LysfsTer?
NM_001195800.2:c.86del NP_001182729.1:p.Arg29LysfsTer?
NM_001195803.2:c.86del NP_001182732.1:p.Arg29LysfsTer?
Search 100 bp 5'
Search 100 bp 3'