Canonical Allele Identifier: CA915952552

Gene: LDLR

Linked Data

• ClinVar Variation Id: 653926
• ClinVar RCV Id: RCV000809786
• dbSNP Id: rs1600762098

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128066_11128105del , CM000681.2:g.11128066_11128105del	GRCh38
NC_000019.9:g.11238742_11238781del , CM000681.1:g.11238742_11238781del	GRCh37
NC_000019.8:g.11099742_11099781del	NCBI36
NG_009060.1:g.43686_43725del , LRG_274:g.43686_43725del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2628_2647+20del
ENST00000559340.2:c.*439_*458+20del
ENST00000560467.2:c.2250_2269+20del
ENST00000558518.6:c.2370_2389+20del
ENST00000252444.9:c.2624_2643+20del
ENST00000455727.6:c.1866_1885+20del
ENST00000535915.5:c.2247_2266+20del
ENST00000545707.5:c.1836_1855+20del
ENST00000557933.5:c.2370_2389+20del
ENST00000558013.5:c.2370_2389+20del
ENST00000558518.5:c.2370_2389+20del
ENST00000560628.1:n.108+412_108+451del
NM_000527.4:c.2370_2389+20del , LRG_274t1:c.2370_2389+20del
NM_001195798.1:c.2370_2389+20del
NM_001195799.1:c.2247_2266+20del
NM_001195800.1:c.1866_1885+20del
NM_001195803.1:c.1836_1855+20del
XM_011528010.1:c.2312-1447_2312-1408del	XP_011526312.1:n.2312-1447_2312-1408del
XM_011528011.1:c.1989_2008+20del
XR_244074.2:n.2380_2399+20del
XM_011528010.2:c.2312-1447_2312-1408del	XP_011526312.1:n.2312-1447_2312-1408del
XR_001753685.2:n.2704_2723+20del
XR_001753686.2:n.2347_2366+20del
NM_000527.5:c.2370_2389+20del
NM_001195798.2:c.2370_2389+20del
NM_001195799.2:c.2247_2266+20del
NM_001195800.2:c.1866_1885+20del
NM_001195803.2:c.1836_1855+20del