Canonical Allele Identifier: CA2573050626

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128072_11128088del , CM000681.2:g.11128072_11128088del	GRCh38
NC_000019.9:g.11238748_11238764del , CM000681.1:g.11238748_11238764del	GRCh37
NC_000019.8:g.11099748_11099764del	NCBI36
NG_009060.1:g.43692_43708del , LRG_274:g.43692_43708del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2634_2647+3del
ENST00000559340.2:c.*445_*458+3del
ENST00000560467.2:c.2256_2269+3del
ENST00000558518.6:c.2376_2389+3del
ENST00000252444.9:c.2630_2643+3del
ENST00000455727.6:c.1872_1885+3del
ENST00000535915.5:c.2253_2266+3del
ENST00000545707.5:c.1842_1855+3del
ENST00000557933.5:c.2376_2389+3del
ENST00000558013.5:c.2376_2389+3del
ENST00000558518.5:c.2376_2389+3del
ENST00000560628.1:n.108+418_108+434del
NM_000527.4:c.2376_2389+3del , LRG_274t1:c.2376_2389+3del
NM_001195798.1:c.2376_2389+3del
NM_001195799.1:c.2253_2266+3del
NM_001195800.1:c.1872_1885+3del
NM_001195803.1:c.1842_1855+3del
XM_011528010.1:c.2312-1441_2312-1425del	XP_011526312.1:n.2312-1441_2312-1425del
XM_011528011.1:c.1995_2008+3del
XR_244074.2:n.2386_2399+3del
XM_011528010.2:c.2312-1441_2312-1425del	XP_011526312.1:n.2312-1441_2312-1425del
XR_001753685.2:n.2710_2723+3del
XR_001753686.2:n.2353_2366+3del
NM_000527.5:c.2376_2389+3del
NM_001195798.2:c.2376_2389+3del
NM_001195799.2:c.2253_2266+3del
NM_001195800.2:c.1872_1885+3del
NM_001195803.2:c.1842_1855+3del