Canonical Allele Identifier: CA2322780309
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129622_11129625delinsGGAT , CM000681.2:g.11129622_11129625delinsGGAT GRCh38
NC_000019.9:g.11240298_11240301delinsGGAT , CM000681.1:g.11240298_11240301delinsGGAT GRCh37
NC_000019.8:g.11101298_11101301delinsGGAT NCBI36
NG_009060.1:g.45242_45245delinsGGAT , LRG_274:g.45242_45245delinsGGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2757_2760delinsGGAT ENSP00000252444.6:p.Glu919=
ENST00000559340.2:c.*568_*571delinsGGAT ENSP00000453696.2:n.*568_*571delinsGGAT
ENST00000560467.2:c.2379_2382delinsGGAT ENSP00000453513.2:p.Glu793=
ENST00000558518.6:c.2499_2502delinsGGAT MANE Select ENSP00000454071.1:p.Glu833=
ENST00000252444.9:c.2753_2756delinsGGAT
ENST00000455727.6:c.1995_1998delinsGGAT ENSP00000397829.2:p.Glu665=
ENST00000535915.5:c.2376_2379delinsGGAT ENSP00000440520.1:p.Glu792=
ENST00000545707.5:c.1965_1968delinsGGAT ENSP00000437639.1:p.Glu655=
ENST00000557933.5:c.2561_2564delinsGGAT ENSP00000453557.1:p.Arg854=
ENST00000558013.5:c.2499_2502delinsGGAT ENSP00000453346.1:p.Glu833=
ENST00000558518.5:c.2499_2502delinsGGAT ENSP00000454071.1:p.Glu833=
ENST00000560628.1:n.108+1968_108+1971delinsGGAT
NM_000527.4:c.2499_2502delinsGGAT , LRG_274t1:c.2499_2502delinsGGAT NP_000518.1:p.Glu833=
NM_001195798.1:c.2499_2502delinsGGAT NP_001182727.1:p.Glu833=
NM_001195799.1:c.2376_2379delinsGGAT NP_001182728.1:p.Glu792=
NM_001195800.1:c.1995_1998delinsGGAT NP_001182729.1:p.Glu665=
NM_001195803.1:c.1965_1968delinsGGAT NP_001182732.1:p.Glu655=
XM_011528010.1:c.2421_2424delinsGGAT XP_011526312.1:p.Glu807=
XM_011528011.1:c.2118_2121delinsGGAT XP_011526313.1:p.Glu706=
XM_011528010.2:c.2421_2424delinsGGAT XP_011526312.1:p.Glu807=
XR_001753685.2:n.2833_2836delinsGGAT
XR_001753686.2:n.2476_2479delinsGGAT
NM_000527.5:c.2499_2502delinsGGAT MANE Select NP_000518.1:p.Glu833=
NM_001195798.2:c.2499_2502delinsGGAT NP_001182727.1:p.Glu833=
NM_001195799.2:c.2376_2379delinsGGAT NP_001182728.1:p.Glu792=
NM_001195800.2:c.1995_1998delinsGGAT NP_001182729.1:p.Glu665=
NM_001195803.2:c.1965_1968delinsGGAT NP_001182732.1:p.Glu655=