Canonical Allele Identifier: CA2573155735
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1457599
ClinVar RCV Id: RCV001953844
dbSNP Id: rs2147241875

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111620del , CM000681.2:g.11111620del GRCh38
NC_000019.9:g.11222296del , CM000681.1:g.11222296del GRCh37
NC_000019.8:g.11083296del NCBI36
NG_009060.1:g.27240del , LRG_274:g.27240del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1425del ENSP00000252444.6:p.Lys476ArgfsTer23
ENST00000559340.2:c.1167del ENSP00000453696.2:p.Lys390ArgfsTer23
ENST00000560467.2:c.1047del ENSP00000453513.2:p.Lys350ArgfsTer23
ENST00000558518.6:c.1167del MANE Select ENSP00000454071.1:p.Lys390ArgfsTer23
ENST00000252444.9:c.1421del
ENST00000455727.6:c.663del ENSP00000397829.2:p.Lys222ArgfsTer23
ENST00000535915.5:c.1044del ENSP00000440520.1:p.Lys349ArgfsTer23
ENST00000545707.5:c.786del ENSP00000437639.1:p.Lys263ArgfsTer23
ENST00000557933.5:c.1167del ENSP00000453557.1:p.Lys390ArgfsTer23
ENST00000558013.5:c.1167del ENSP00000453346.1:p.Lys390ArgfsTer23
ENST00000558518.5:c.1167del ENSP00000454071.1:p.Lys390ArgfsTer23
ENST00000560173.1:n.166del
ENST00000560467.1:c.647del
NM_000527.4:c.1167del , LRG_274t1:c.1167del NP_000518.1:p.Lys390ArgfsTer23
NM_001195798.1:c.1167del NP_001182727.1:p.Lys390ArgfsTer23
NM_001195799.1:c.1044del NP_001182728.1:p.Lys349ArgfsTer23
NM_001195800.1:c.663del NP_001182729.1:p.Lys222ArgfsTer23
NM_001195803.1:c.786del NP_001182732.1:p.Lys263ArgfsTer23
XM_011528010.1:c.1167del XP_011526312.1:p.Lys390ArgfsTer23
XM_011528011.1:c.786del XP_011526313.1:p.Lys263ArgfsTer23
XR_244074.2:n.1317del
XM_011528010.2:c.1167del XP_011526312.1:p.Lys390ArgfsTer23
XR_001753685.2:n.1284del
XR_001753686.2:n.1284del
NM_000527.5:c.1167del MANE Select NP_000518.1:p.Lys390ArgfsTer23
NM_001195798.2:c.1167del NP_001182727.1:p.Lys390ArgfsTer23
NM_001195799.2:c.1044del NP_001182728.1:p.Lys349ArgfsTer23
NM_001195800.2:c.663del NP_001182729.1:p.Lys222ArgfsTer23
NM_001195803.2:c.786del NP_001182732.1:p.Lys263ArgfsTer23