Canonical Allele Identifier: CA16602330
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375816
ClinVar RCV Id: RCV000417246
dbSNP Id: rs1057519672

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113654del , CM000681.2:g.11113654del GRCh38
NC_000019.9:g.11224330del , CM000681.1:g.11224330del GRCh37
NC_000019.8:g.11085330del NCBI36
NG_009060.1:g.29274del , LRG_274:g.29274del

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1736del ENSP00000252444.6:p.Ser579LeufsTer14
ENST00000559340.2:c.1478del ENSP00000453696.2:p.Ser493LeufsTer14
ENST00000560467.2:c.1358del ENSP00000453513.2:p.Ser453LeufsTer14
ENST00000558518.6:c.1478del MANE Select ENSP00000454071.1:p.Ser493LeufsTer14
ENST00000252444.9:c.1732del
ENST00000455727.6:c.974del ENSP00000397829.2:p.Ser325LeufsTer14
ENST00000535915.5:c.1355del ENSP00000440520.1:p.Ser452LeufsTer14
ENST00000545707.5:c.1097del ENSP00000437639.1:p.Ser366LeufsTer14
ENST00000557933.5:c.1478del ENSP00000453557.1:p.Ser493LeufsTer14
ENST00000558013.5:c.1478del ENSP00000453346.1:p.Ser493LeufsTer14
ENST00000558518.5:c.1478del ENSP00000454071.1:p.Ser493LeufsTer14
ENST00000559340.1:c.199del
NM_000527.4:c.1478del , LRG_274t1:c.1478del NP_000518.1:p.Ser493LeufsTer14
NM_001195798.1:c.1478del NP_001182727.1:p.Ser493LeufsTer14
NM_001195799.1:c.1355del NP_001182728.1:p.Ser452LeufsTer14
NM_001195800.1:c.974del NP_001182729.1:p.Ser325LeufsTer14
NM_001195803.1:c.1097del NP_001182732.1:p.Ser366LeufsTer14
XM_011528010.1:c.1478del XP_011526312.1:p.Ser493LeufsTer14
XM_011528011.1:c.1097del XP_011526313.1:p.Ser366LeufsTer14
XR_244074.2:n.1628del
XM_011528010.2:c.1478del XP_011526312.1:p.Ser493LeufsTer14
XR_001753685.2:n.1595del
XR_001753686.2:n.1595del
NM_000527.5:c.1478del MANE Select NP_000518.1:p.Ser493LeufsTer14
NM_001195798.2:c.1478del NP_001182727.1:p.Ser493LeufsTer14
NM_001195799.2:c.1355del NP_001182728.1:p.Ser452LeufsTer14
NM_001195800.2:c.974del NP_001182729.1:p.Ser325LeufsTer14
NM_001195803.2:c.1097del NP_001182732.1:p.Ser366LeufsTer14