Canonical Allele Identifier: CA2580096571

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2430372
• ClinVar RCV Id: RCV003128550

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116947_11116948del , CM000681.2:g.11116947_11116948del	GRCh38
NC_000019.9:g.11227623_11227624del , CM000681.1:g.11227623_11227624del	GRCh37
NC_000019.8:g.11088623_11088624del	NCBI36
NG_009060.1:g.32567_32568del , LRG_274:g.32567_32568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2052_2053del	ENSP00000252444.6:p.Leu685GlyfsTer3
ENST00000559340.2:c.1705+735_1705+736del	ENSP00000453696.2:n.1705+735_1705+736del
ENST00000560467.2:c.1674_1675del	ENSP00000453513.2:p.Leu559GlyfsTer3
ENST00000558518.6:c.1794_1795del MANE Select	ENSP00000454071.1:p.Leu599GlyfsTer3
ENST00000252444.9:c.2048_2049del
ENST00000455727.6:c.1290_1291del	ENSP00000397829.2:p.Leu431GlyfsTer3
ENST00000535915.5:c.1671_1672del	ENSP00000440520.1:p.Leu558GlyfsTer3
ENST00000545707.5:c.1413_1414del	ENSP00000437639.1:p.Leu472GlyfsTer3
ENST00000557933.5:c.1794_1795del	ENSP00000453557.1:p.Leu599GlyfsTer3
ENST00000558013.5:c.1794_1795del	ENSP00000453346.1:p.Leu599GlyfsTer3
ENST00000558518.5:c.1794_1795del	ENSP00000454071.1:p.Leu599GlyfsTer3
ENST00000559340.1:c.426+735_426+736del
NM_000527.4:c.1794_1795del , LRG_274t1:c.1794_1795del	NP_000518.1:p.Leu599GlyfsTer3
NM_001195798.1:c.1794_1795del	NP_001182727.1:p.Leu599GlyfsTer3
NM_001195799.1:c.1671_1672del	NP_001182728.1:p.Leu558GlyfsTer3
NM_001195800.1:c.1290_1291del	NP_001182729.1:p.Leu431GlyfsTer3
NM_001195803.1:c.1413_1414del	NP_001182732.1:p.Leu472GlyfsTer3
XM_011528010.1:c.1794_1795del	XP_011526312.1:p.Leu599GlyfsTer3
XM_011528011.1:c.1413_1414del	XP_011526313.1:p.Leu472GlyfsTer3
XR_244074.2:n.1855+735_1855+736del
XM_011528010.2:c.1794_1795del	XP_011526312.1:p.Leu599GlyfsTer3
XR_001753685.2:n.1911_1912del
XR_001753686.2:n.1822+735_1822+736del
NM_000527.5:c.1794_1795del MANE Select	NP_000518.1:p.Leu599GlyfsTer3
NM_001195798.2:c.1794_1795del	NP_001182727.1:p.Leu599GlyfsTer3
NM_001195799.2:c.1671_1672del	NP_001182728.1:p.Leu558GlyfsTer3
NM_001195800.2:c.1290_1291del	NP_001182729.1:p.Leu431GlyfsTer3
NM_001195803.2:c.1413_1414del	NP_001182732.1:p.Leu472GlyfsTer3