Canonical Allele Identifier: CA2825002700
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3231947
ClinVar RCV Id: RCV004518662

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113390_11113395del , CM000681.2:g.11113390_11113395del GRCh38
NC_000019.9:g.11224066_11224071del , CM000681.1:g.11224066_11224071del GRCh37
NC_000019.8:g.11085066_11085071del NCBI36
NG_009060.1:g.29010_29015del , LRG_274:g.29010_29015del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1557_1562del ENSP00000252444.6:p.Asp519_Thr520del
ENST00000559340.2:c.1299_1304del ENSP00000453696.2:p.Asp433_Thr434del
ENST00000560467.2:c.1179_1184del ENSP00000453513.2:p.Asp393_Thr394del
ENST00000558518.6:c.1299_1304del MANE Select ENSP00000454071.1:p.Asp433_Thr434del
ENST00000252444.9:c.1553_1558del
ENST00000455727.6:c.795_800del ENSP00000397829.2:p.Asp265_Thr266del
ENST00000535915.5:c.1176_1181del ENSP00000440520.1:p.Asp392_Thr393del
ENST00000545707.5:c.918_923del ENSP00000437639.1:p.Asp306_Thr307del
ENST00000557933.5:c.1299_1304del ENSP00000453557.1:p.Asp433_Thr434del
ENST00000558013.5:c.1299_1304del ENSP00000453346.1:p.Asp433_Thr434del
ENST00000558518.5:c.1299_1304del ENSP00000454071.1:p.Asp433_Thr434del
ENST00000559340.1:c.20_25del
ENST00000560173.1:n.298_303del
ENST00000560467.1:c.779_784del
NM_000527.4:c.1299_1304del , LRG_274t1:c.1299_1304del NP_000518.1:p.Asp433_Thr434del
NM_001195798.1:c.1299_1304del NP_001182727.1:p.Asp433_Thr434del
NM_001195799.1:c.1176_1181del NP_001182728.1:p.Asp392_Thr393del
NM_001195800.1:c.795_800del NP_001182729.1:p.Asp265_Thr266del
NM_001195803.1:c.918_923del NP_001182732.1:p.Asp306_Thr307del
XM_011528010.1:c.1299_1304del XP_011526312.1:p.Asp433_Thr434del
XM_011528011.1:c.918_923del XP_011526313.1:p.Asp306_Thr307del
XR_244074.2:n.1449_1454del
XM_011528010.2:c.1299_1304del XP_011526312.1:p.Asp433_Thr434del
XR_001753685.2:n.1416_1421del
XR_001753686.2:n.1416_1421del
NM_000527.5:c.1299_1304del MANE Select NP_000518.1:p.Asp433_Thr434del
NM_001195798.2:c.1299_1304del NP_001182727.1:p.Asp433_Thr434del
NM_001195799.2:c.1176_1181del NP_001182728.1:p.Asp392_Thr393del
NM_001195800.2:c.795_800del NP_001182729.1:p.Asp265_Thr266del
NM_001195803.2:c.918_923del NP_001182732.1:p.Asp306_Thr307del