Canonical Allele Identifier: CA2580613055
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1780568
ClinVar RCV Id: RCV002410161

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116963_11116964del , CM000681.2:g.11116963_11116964del GRCh38
NC_000019.9:g.11227639_11227640del , CM000681.1:g.11227639_11227640del GRCh37
NC_000019.8:g.11088639_11088640del NCBI36
NG_009060.1:g.32583_32584del , LRG_274:g.32583_32584del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2068_2069del ENSP00000252444.6:p.Arg690AlafsTer11
ENST00000559340.2:c.1705+751_1705+752del ENSP00000453696.2:n.1705+751_1705+752del
ENST00000560467.2:c.1690_1691del ENSP00000453513.2:p.Arg564AlafsTer11
ENST00000558518.6:c.1810_1811del MANE Select ENSP00000454071.1:p.Arg604AlafsTer11
ENST00000252444.9:c.2064_2065del
ENST00000455727.6:c.1306_1307del ENSP00000397829.2:p.Arg436AlafsTer11
ENST00000535915.5:c.1687_1688del ENSP00000440520.1:p.Arg563AlafsTer11
ENST00000545707.5:c.1429_1430del ENSP00000437639.1:p.Arg477AlafsTer11
ENST00000557933.5:c.1810_1811del ENSP00000453557.1:p.Arg604AlafsTer11
ENST00000558013.5:c.1810_1811del ENSP00000453346.1:p.Arg604AlafsTer11
ENST00000558518.5:c.1810_1811del ENSP00000454071.1:p.Arg604AlafsTer11
ENST00000559340.1:c.426+751_426+752del
NM_000527.4:c.1810_1811del , LRG_274t1:c.1810_1811del NP_000518.1:p.Arg604AlafsTer11
NM_001195798.1:c.1810_1811del NP_001182727.1:p.Arg604AlafsTer11
NM_001195799.1:c.1687_1688del NP_001182728.1:p.Arg563AlafsTer11
NM_001195800.1:c.1306_1307del NP_001182729.1:p.Arg436AlafsTer11
NM_001195803.1:c.1429_1430del NP_001182732.1:p.Arg477AlafsTer11
XM_011528010.1:c.1810_1811del XP_011526312.1:p.Arg604AlafsTer11
XM_011528011.1:c.1429_1430del XP_011526313.1:p.Arg477AlafsTer11
XR_244074.2:n.1855+751_1855+752del
XM_011528010.2:c.1810_1811del XP_011526312.1:p.Arg604AlafsTer11
XR_001753685.2:n.1927_1928del
XR_001753686.2:n.1822+751_1822+752del
NM_000527.5:c.1810_1811del MANE Select NP_000518.1:p.Arg604AlafsTer11
NM_001195798.2:c.1810_1811del NP_001182727.1:p.Arg604AlafsTer11
NM_001195799.2:c.1687_1688del NP_001182728.1:p.Arg563AlafsTer11
NM_001195800.2:c.1306_1307del NP_001182729.1:p.Arg436AlafsTer11
NM_001195803.2:c.1429_1430del NP_001182732.1:p.Arg477AlafsTer11