Canonical Allele Identifier: CA2322779551

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128065_11128105delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC , CM000681.2:g.11128065_11128105delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC	GRCh38
NC_000019.9:g.11238741_11238781delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC , CM000681.1:g.11238741_11238781delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC	GRCh37
NC_000019.8:g.11099741_11099781delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC	NCBI36
NG_009060.1:g.43685_43725delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC , LRG_274:g.43685_43725delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2627_2647+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
ENST00000559340.2:c.*438_*458+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
ENST00000560467.2:c.2249_2269+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
ENST00000558518.6:c.2369_2389+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
ENST00000252444.9:c.2623_2643+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
ENST00000455727.6:c.1865_1885+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
ENST00000535915.5:c.2246_2266+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
ENST00000545707.5:c.1835_1855+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
ENST00000557933.5:c.2369_2389+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
ENST00000558013.5:c.2369_2389+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
ENST00000558518.5:c.2369_2389+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
ENST00000560628.1:n.108+411_108+451delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
NM_000527.4:c.2369_2389+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC , LRG_274t1:c.2369_2389+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
NM_001195798.1:c.2369_2389+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
NM_001195799.1:c.2246_2266+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
NM_001195800.1:c.1865_1885+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
NM_001195803.1:c.1835_1855+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
XM_011528010.1:c.2312-1448_2312-1408delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC	XP_011526312.1:n.2312-1448_2312-1408delin...
XM_011528011.1:c.1988_2008+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
XR_244074.2:n.2379_2399+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
XM_011528010.2:c.2312-1448_2312-1408delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC	XP_011526312.1:n.2312-1448_2312-1408delin...
XR_001753685.2:n.2703_2723+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
XR_001753686.2:n.2346_2366+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
NM_000527.5:c.2369_2389+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
NM_001195798.2:c.2369_2389+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
NM_001195799.2:c.2246_2266+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
NM_001195800.2:c.1865_1885+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
NM_001195803.2:c.1835_1855+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC