Canonical Allele Identifier: CA658658768
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 456651
dbSNP Id: rs1555806529

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116964delinsCT , CM000681.2:g.11116964delinsCT GRCh38
NC_000019.9:g.11227640delinsCT , CM000681.1:g.11227640delinsCT GRCh37
NC_000019.8:g.11088640delinsCT NCBI36
NG_009060.1:g.32584delinsCT , LRG_274:g.32584delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2069delinsCT ENSP00000252444.6:p.Arg690ThrfsTer12
ENST00000559340.2:c.1705+752delinsCT ENSP00000453696.2:n.1705+752delinsCT
ENST00000560467.2:c.1691delinsCT ENSP00000453513.2:p.Arg564ThrfsTer12
ENST00000558518.6:c.1811delinsCT MANE Select ENSP00000454071.1:p.Arg604ThrfsTer12
ENST00000252444.9:c.2065delinsCT
ENST00000455727.6:c.1307delinsCT ENSP00000397829.2:p.Arg436ThrfsTer12
ENST00000535915.5:c.1688delinsCT ENSP00000440520.1:p.Arg563ThrfsTer12
ENST00000545707.5:c.1430delinsCT ENSP00000437639.1:p.Arg477ThrfsTer12
ENST00000557933.5:c.1811delinsCT ENSP00000453557.1:p.Arg604ThrfsTer12
ENST00000558013.5:c.1811delinsCT ENSP00000453346.1:p.Arg604ThrfsTer12
ENST00000558518.5:c.1811delinsCT ENSP00000454071.1:p.Arg604ThrfsTer12
ENST00000559340.1:c.426+752delinsCT
NM_000527.4:c.1811delinsCT , LRG_274t1:c.1811delinsCT NP_000518.1:p.Arg604ThrfsTer12
NM_001195798.1:c.1811delinsCT NP_001182727.1:p.Arg604ThrfsTer12
NM_001195799.1:c.1688delinsCT NP_001182728.1:p.Arg563ThrfsTer12
NM_001195800.1:c.1307delinsCT NP_001182729.1:p.Arg436ThrfsTer12
NM_001195803.1:c.1430delinsCT NP_001182732.1:p.Arg477ThrfsTer12
XM_011528010.1:c.1811delinsCT XP_011526312.1:p.Arg604ThrfsTer12
XM_011528011.1:c.1430delinsCT XP_011526313.1:p.Arg477ThrfsTer12
XR_244074.2:n.1855+752delinsCT
XM_011528010.2:c.1811delinsCT XP_011526312.1:p.Arg604ThrfsTer12
XR_001753685.2:n.1928delinsCT
XR_001753686.2:n.1822+752delinsCT
NM_000527.5:c.1811delinsCT MANE Select NP_000518.1:p.Arg604ThrfsTer12
NM_001195798.2:c.1811delinsCT NP_001182727.1:p.Arg604ThrfsTer12
NM_001195799.2:c.1688delinsCT NP_001182728.1:p.Arg563ThrfsTer12
NM_001195800.2:c.1307delinsCT NP_001182729.1:p.Arg436ThrfsTer12
NM_001195803.2:c.1430delinsCT NP_001182732.1:p.Arg477ThrfsTer12