Canonical Allele Identifier: CA10576319
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226373
ClinVar RCV Id: RCV000211702
dbSNP Id: rs875989931

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116929_11116931del , CM000681.2:g.11116929_11116931del GRCh38
NC_000019.9:g.11227605_11227607del , CM000681.1:g.11227605_11227607del GRCh37
NC_000019.8:g.11088605_11088607del NCBI36
NG_009060.1:g.32549_32551del , LRG_274:g.32549_32551del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2034_2036del ENSP00000252444.6:p.Gly679del
ENST00000559340.2:c.1705+717_1705+719del ENSP00000453696.2:n.1705+717_1705+719del
ENST00000560467.2:c.1656_1658del ENSP00000453513.2:p.Gly553del
ENST00000558518.6:c.1776_1778del MANE Select ENSP00000454071.1:p.Gly593del
ENST00000252444.9:c.2030_2032del
ENST00000455727.6:c.1272_1274del ENSP00000397829.2:p.Gly425del
ENST00000535915.5:c.1653_1655del ENSP00000440520.1:p.Gly552del
ENST00000545707.5:c.1395_1397del ENSP00000437639.1:p.Gly466del
ENST00000557933.5:c.1776_1778del ENSP00000453557.1:p.Gly593del
ENST00000558013.5:c.1776_1778del ENSP00000453346.1:p.Gly593del
ENST00000558518.5:c.1776_1778del ENSP00000454071.1:p.Gly593del
ENST00000559340.1:c.426+717_426+719del
NM_000527.4:c.1776_1778del , LRG_274t1:c.1776_1778del NP_000518.1:p.Gly593del
NM_001195798.1:c.1776_1778del NP_001182727.1:p.Gly593del
NM_001195799.1:c.1653_1655del NP_001182728.1:p.Gly552del
NM_001195800.1:c.1272_1274del NP_001182729.1:p.Gly425del
NM_001195803.1:c.1395_1397del NP_001182732.1:p.Gly466del
XM_011528010.1:c.1776_1778del XP_011526312.1:p.Gly593del
XM_011528011.1:c.1395_1397del XP_011526313.1:p.Gly466del
XR_244074.2:n.1855+717_1855+719del
XM_011528010.2:c.1776_1778del XP_011526312.1:p.Gly593del
XR_001753685.2:n.1893_1895del
XR_001753686.2:n.1822+717_1822+719del
NM_000527.5:c.1776_1778del MANE Select NP_000518.1:p.Gly593del
NM_001195798.2:c.1776_1778del NP_001182727.1:p.Gly593del
NM_001195799.2:c.1653_1655del NP_001182728.1:p.Gly552del
NM_001195800.2:c.1272_1274del NP_001182729.1:p.Gly425del
NM_001195803.2:c.1395_1397del NP_001182732.1:p.Gly466del