Canonical Allele Identifier: CA10585667
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252097
dbSNP Id: rs879255062

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120117_11120119del , CM000681.2:g.11120117_11120119del GRCh38
NC_000019.9:g.11230793_11230795del , CM000681.1:g.11230793_11230795del GRCh37
NC_000019.8:g.11091793_11091795del NCBI36
NG_009060.1:g.35737_35739del , LRG_274:g.35737_35739del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2129_2131del ENSP00000252444.6:p.Ile710del
ENST00000559340.2:c.1731_1733del ENSP00000453696.2:p.His577del
ENST00000560467.2:c.1751_1753del ENSP00000453513.2:p.Ile584del
ENST00000558518.6:c.1871_1873del MANE Select ENSP00000454071.1:p.Ile624del
ENST00000252444.9:c.2125_2127del
ENST00000455727.6:c.1367_1369del ENSP00000397829.2:p.Ile456del
ENST00000535915.5:c.1748_1750del ENSP00000440520.1:p.Ile583del
ENST00000545707.5:c.1490_1492del ENSP00000437639.1:p.Ile497del
ENST00000557933.5:c.1871_1873del ENSP00000453557.1:p.Ile624del
ENST00000558013.5:c.1871_1873del ENSP00000453346.1:p.Ile624del
ENST00000558518.5:c.1871_1873del ENSP00000454071.1:p.Ile624del
ENST00000559340.1:c.452_454del
NM_000527.4:c.1871_1873del , LRG_274t1:c.1871_1873del NP_000518.1:p.Ile624del
NM_001195798.1:c.1871_1873del NP_001182727.1:p.Ile624del
NM_001195799.1:c.1748_1750del NP_001182728.1:p.Ile583del
NM_001195800.1:c.1367_1369del NP_001182729.1:p.Ile456del
NM_001195803.1:c.1490_1492del NP_001182732.1:p.Ile497del
XM_011528010.1:c.1871_1873del XP_011526312.1:p.Ile624del
XM_011528011.1:c.1490_1492del XP_011526313.1:p.Ile497del
XR_244074.2:n.1881_1883del
XM_011528010.2:c.1871_1873del XP_011526312.1:p.Ile624del
XR_001753685.2:n.1988_1990del
XR_001753686.2:n.1848_1850del
NM_000527.5:c.1871_1873del MANE Select NP_000518.1:p.Ile624del
NM_001195798.2:c.1871_1873del NP_001182727.1:p.Ile624del
NM_001195799.2:c.1748_1750del NP_001182728.1:p.Ile583del
NM_001195800.2:c.1367_1369del NP_001182729.1:p.Ile456del
NM_001195803.2:c.1490_1492del NP_001182732.1:p.Ile497del