Canonical Allele Identifier: CA2322780307
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129621_11129622delinsAG , CM000681.2:g.11129621_11129622delinsAG GRCh38
NC_000019.9:g.11240297_11240298delinsAG , CM000681.1:g.11240297_11240298delinsAG GRCh37
NC_000019.8:g.11101297_11101298delinsAG NCBI36
NG_009060.1:g.45241_45242delinsAG , LRG_274:g.45241_45242delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2756_2757delinsAG ENSP00000252444.6:p.Glu919=
ENST00000559340.2:c.*567_*568delinsAG ENSP00000453696.2:n.*567_*568delinsAG
ENST00000560467.2:c.2378_2379delinsAG ENSP00000453513.2:p.Glu793=
ENST00000558518.6:c.2498_2499delinsAG MANE Select ENSP00000454071.1:p.Glu833=
ENST00000252444.9:c.2752_2753delinsAG
ENST00000455727.6:c.1994_1995delinsAG ENSP00000397829.2:p.Glu665=
ENST00000535915.5:c.2375_2376delinsAG ENSP00000440520.1:p.Glu792=
ENST00000545707.5:c.1964_1965delinsAG ENSP00000437639.1:p.Glu655=
ENST00000557933.5:c.2560_2561delinsAG ENSP00000453557.1:p.Arg854=
ENST00000558013.5:c.2498_2499delinsAG ENSP00000453346.1:p.Glu833=
ENST00000558518.5:c.2498_2499delinsAG ENSP00000454071.1:p.Glu833=
ENST00000560628.1:n.108+1967_108+1968delinsAG
NM_000527.4:c.2498_2499delinsAG , LRG_274t1:c.2498_2499delinsAG NP_000518.1:p.Glu833=
NM_001195798.1:c.2498_2499delinsAG NP_001182727.1:p.Glu833=
NM_001195799.1:c.2375_2376delinsAG NP_001182728.1:p.Glu792=
NM_001195800.1:c.1994_1995delinsAG NP_001182729.1:p.Glu665=
NM_001195803.1:c.1964_1965delinsAG NP_001182732.1:p.Glu655=
XM_011528010.1:c.2420_2421delinsAG XP_011526312.1:p.Glu807=
XM_011528011.1:c.2117_2118delinsAG XP_011526313.1:p.Glu706=
XM_011528010.2:c.2420_2421delinsAG XP_011526312.1:p.Glu807=
XR_001753685.2:n.2832_2833delinsAG
XR_001753686.2:n.2475_2476delinsAG
NM_000527.5:c.2498_2499delinsAG MANE Select NP_000518.1:p.Glu833=
NM_001195798.2:c.2498_2499delinsAG NP_001182727.1:p.Glu833=
NM_001195799.2:c.2375_2376delinsAG NP_001182728.1:p.Glu792=
NM_001195800.2:c.1994_1995delinsAG NP_001182729.1:p.Glu665=
NM_001195803.2:c.1964_1965delinsAG NP_001182732.1:p.Glu655=