Canonical Allele Identifier: CA2695202623
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129638_11129682del , CM000681.2:g.11129638_11129682del GRCh38
NC_000019.9:g.11240314_11240358del , CM000681.1:g.11240314_11240358del GRCh37
NC_000019.8:g.11101314_11101358del NCBI36
NG_009060.1:g.45258_45302del , LRG_274:g.45258_45302del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2773_2805+12del
ENST00000559340.2:c.*584_*616+12del
ENST00000560467.2:c.2395_2427+12del
ENST00000558518.6:c.2515_2547+12del
ENST00000252444.9:c.2769_2801+12del
ENST00000455727.6:c.2011_2043+12del
ENST00000535915.5:c.2392_2424+12del
ENST00000545707.5:c.1981_2013+12del
ENST00000557933.5:c.2577_2609+12del
ENST00000558013.5:c.2515_2547+12del
ENST00000558518.5:c.2515_2547+12del
ENST00000560628.1:n.108+1984_108+2028del
NM_000527.4:c.2515_2547+12del , LRG_274t1:c.2515_2547+12del
NM_001195798.1:c.2515_2547+12del
NM_001195799.1:c.2392_2424+12del
NM_001195800.1:c.2011_2043+12del
NM_001195803.1:c.1981_2013+12del
XM_011528010.1:c.2437_2469+12del
XM_011528011.1:c.2134_2166+12del
XM_011528010.2:c.2437_2469+12del
XR_001753685.2:n.2849_2881+12del
XR_001753686.2:n.2492_2524+12del
NM_000527.5:c.2515_2547+12del
NM_001195798.2:c.2515_2547+12del
NM_001195799.2:c.2392_2424+12del
NM_001195800.2:c.2011_2043+12del
NM_001195803.2:c.1981_2013+12del