Canonical Allele Identifier: CA2825002706
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3118260
ClinVar RCV Id: RCV004412641

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116917_11116928delinsGTCAATGGGGGCAACC , CM000681.2:g.11116917_11116928delinsGTCAATGGGGGCAACC GRCh38
NC_000019.9:g.11227593_11227604delinsGTCAATGGGGGCAACC , CM000681.1:g.11227593_11227604delinsGTCAATGGGGGCAACC GRCh37
NC_000019.8:g.11088593_11088604delinsGTCAATGGGGGCAACC NCBI36
NG_009060.1:g.32537_32548delinsGTCAATGGGGGCAACC , LRG_274:g.32537_32548delinsGTCAATGGGGGCAACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2022_2033delinsGTCAATGGGGGCAACC ENSP00000252444.6:p.Ile674MetfsTer16
ENST00000559340.2:c.1705+705_1705+716delinsGTCAATGGGGGCAACC ENSP00000453696.2:n.1705+705_1705+716delinsGTCAATGGGGGCAACC
ENST00000560467.2:c.1644_1655delinsGTCAATGGGGGCAACC ENSP00000453513.2:p.Ile548MetfsTer16
ENST00000558518.6:c.1764_1775delinsGTCAATGGGGGCAACC MANE Select ENSP00000454071.1:p.Ile588MetfsTer16
ENST00000252444.9:c.2018_2029delinsGTCAATGGGGGCAACC
ENST00000455727.6:c.1260_1271delinsGTCAATGGGGGCAACC ENSP00000397829.2:p.Ile420MetfsTer16
ENST00000535915.5:c.1641_1652delinsGTCAATGGGGGCAACC ENSP00000440520.1:p.Ile547MetfsTer16
ENST00000545707.5:c.1383_1394delinsGTCAATGGGGGCAACC ENSP00000437639.1:p.Ile461MetfsTer16
ENST00000557933.5:c.1764_1775delinsGTCAATGGGGGCAACC ENSP00000453557.1:p.Ile588MetfsTer16
ENST00000558013.5:c.1764_1775delinsGTCAATGGGGGCAACC ENSP00000453346.1:p.Ile588MetfsTer16
ENST00000558518.5:c.1764_1775delinsGTCAATGGGGGCAACC ENSP00000454071.1:p.Ile588MetfsTer16
ENST00000559340.1:c.426+705_426+716delinsGTCAATGGGGGCAACC
NM_000527.4:c.1764_1775delinsGTCAATGGGGGCAACC , LRG_274t1:c.1764_1775delinsGTCAATGGGGGCAACC NP_000518.1:p.Ile588MetfsTer16
NM_001195798.1:c.1764_1775delinsGTCAATGGGGGCAACC NP_001182727.1:p.Ile588MetfsTer16
NM_001195799.1:c.1641_1652delinsGTCAATGGGGGCAACC NP_001182728.1:p.Ile547MetfsTer16
NM_001195800.1:c.1260_1271delinsGTCAATGGGGGCAACC NP_001182729.1:p.Ile420MetfsTer16
NM_001195803.1:c.1383_1394delinsGTCAATGGGGGCAACC NP_001182732.1:p.Ile461MetfsTer16
XM_011528010.1:c.1764_1775delinsGTCAATGGGGGCAACC XP_011526312.1:p.Ile588MetfsTer16
XM_011528011.1:c.1383_1394delinsGTCAATGGGGGCAACC XP_011526313.1:p.Ile461MetfsTer16
XR_244074.2:n.1855+705_1855+716delinsGTCAATGGGGGCAACC
XM_011528010.2:c.1764_1775delinsGTCAATGGGGGCAACC XP_011526312.1:p.Ile588MetfsTer16
XR_001753685.2:n.1881_1892delinsGTCAATGGGGGCAACC
XR_001753686.2:n.1822+705_1822+716delinsGTCAATGGGGGCAACC
NM_000527.5:c.1764_1775delinsGTCAATGGGGGCAACC MANE Select NP_000518.1:p.Ile588MetfsTer16
NM_001195798.2:c.1764_1775delinsGTCAATGGGGGCAACC NP_001182727.1:p.Ile588MetfsTer16
NM_001195799.2:c.1641_1652delinsGTCAATGGGGGCAACC NP_001182728.1:p.Ile547MetfsTer16
NM_001195800.2:c.1260_1271delinsGTCAATGGGGGCAACC NP_001182729.1:p.Ile420MetfsTer16
NM_001195803.2:c.1383_1394delinsGTCAATGGGGGCAACC NP_001182732.1:p.Ile461MetfsTer16