Canonical Allele Identifier: CA2580096442
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2500336
ClinVar RCV Id: RCV003224994

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113640_11113641del , CM000681.2:g.11113640_11113641del GRCh38
NC_000019.9:g.11224316_11224317del , CM000681.1:g.11224316_11224317del GRCh37
NC_000019.8:g.11085316_11085317del NCBI36
NG_009060.1:g.29260_29261del , LRG_274:g.29260_29261del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1722_1723del ENSP00000252444.6:p.Tyr575LeufsTer?
ENST00000559340.2:c.1464_1465del ENSP00000453696.2:p.Tyr489LeufsTer?
ENST00000560467.2:c.1344_1345del ENSP00000453513.2:p.Tyr449LeufsTer?
ENST00000558518.6:c.1464_1465del MANE Select ENSP00000454071.1:p.Tyr489LeufsTer?
ENST00000252444.9:c.1718_1719del
ENST00000455727.6:c.960_961del ENSP00000397829.2:p.Tyr321LeufsTer?
ENST00000535915.5:c.1341_1342del ENSP00000440520.1:p.Tyr448LeufsTer?
ENST00000545707.5:c.1083_1084del ENSP00000437639.1:p.Tyr362LeufsTer?
ENST00000557933.5:c.1464_1465del ENSP00000453557.1:p.Tyr489LeufsTer?
ENST00000558013.5:c.1464_1465del ENSP00000453346.1:p.Tyr489LeufsTer?
ENST00000558518.5:c.1464_1465del ENSP00000454071.1:p.Tyr489LeufsTer?
ENST00000559340.1:c.185_186del
NM_000527.4:c.1464_1465del , LRG_274t1:c.1464_1465del NP_000518.1:p.Tyr489LeufsTer?
NM_001195798.1:c.1464_1465del NP_001182727.1:p.Tyr489LeufsTer?
NM_001195799.1:c.1341_1342del NP_001182728.1:p.Tyr448LeufsTer?
NM_001195800.1:c.960_961del NP_001182729.1:p.Tyr321LeufsTer?
NM_001195803.1:c.1083_1084del NP_001182732.1:p.Tyr362LeufsTer?
XM_011528010.1:c.1464_1465del XP_011526312.1:p.Tyr489LeufsTer?
XM_011528011.1:c.1083_1084del XP_011526313.1:p.Tyr362LeufsTer?
XR_244074.2:n.1614_1615del
XM_011528010.2:c.1464_1465del XP_011526312.1:p.Tyr489LeufsTer?
XR_001753685.2:n.1581_1582del
XR_001753686.2:n.1581_1582del
NM_000527.5:c.1464_1465del MANE Select NP_000518.1:p.Tyr489LeufsTer?
NM_001195798.2:c.1464_1465del NP_001182727.1:p.Tyr489LeufsTer?
NM_001195799.2:c.1341_1342del NP_001182728.1:p.Tyr448LeufsTer?
NM_001195800.2:c.960_961del NP_001182729.1:p.Tyr321LeufsTer?
NM_001195803.2:c.1083_1084del NP_001182732.1:p.Tyr362LeufsTer?