Canonical Allele Identifier: CA2497030039

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1783896
• ClinVar RCV Id: RCV002423768

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120320_11120389del , CM000681.2:g.11120320_11120389del	GRCh38
NC_000019.9:g.11230996_11231065del , CM000681.1:g.11230996_11231065del	GRCh37
NC_000019.8:g.11091996_11092065del	NCBI36
NG_009060.1:g.35940_36009del , LRG_274:g.35940_36009del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2246-50_2265del
ENST00000559340.2:c.*57-50_*76del
ENST00000560467.2:c.1868-50_1887del
ENST00000558518.6:c.1988-50_2007del
ENST00000252444.9:c.2242-50_2261del
ENST00000455727.6:c.1484-50_1503del
ENST00000535915.5:c.1865-50_1884del
ENST00000545707.5:c.1606+87_1606+156del	ENSP00000437639.1:n.1606+87_1606+156del
ENST00000557933.5:c.1988-50_2007del
ENST00000558013.5:c.1988-50_2007del
ENST00000558518.5:c.1988-50_2007del
ENST00000559340.1:c.569-50_588del
NM_000527.4:c.1988-50_2007del , LRG_274t1:c.1988-50_2007del
NM_001195798.1:c.1988-50_2007del
NM_001195799.1:c.1865-50_1884del
NM_001195800.1:c.1484-50_1503del
NM_001195803.1:c.1606+87_1606+156del	NP_001182732.1:n.1606+87_1606+156del
XM_011528010.1:c.1988-50_2007del
XM_011528011.1:c.1607-50_1626del
XR_244074.2:n.1998-50_2017del
XM_011528010.2:c.1988-50_2007del
XR_001753685.2:n.2105-50_2124del
XR_001753686.2:n.1965-50_1984del
NM_000527.5:c.1988-50_2007del
NM_001195798.2:c.1988-50_2007del
NM_001195799.2:c.1865-50_1884del
NM_001195800.2:c.1484-50_1503del
NM_001195803.2:c.1606+87_1606+156del	NP_001182732.1:n.1606+87_1606+156del