Canonical Allele Identifier: CA2322780254
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129523_11129524delinsCT , CM000681.2:g.11129523_11129524delinsCT GRCh38
NC_000019.9:g.11240199_11240200delinsCT , CM000681.1:g.11240199_11240200delinsCT GRCh37
NC_000019.8:g.11101199_11101200delinsCT NCBI36
NG_009060.1:g.45143_45144delinsCT , LRG_274:g.45143_45144delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2658_2659delinsCT ENSP00000252444.6:p.Val886=
ENST00000559340.2:c.*469_*470delinsCT ENSP00000453696.2:n.*469_*470delinsCT
ENST00000560467.2:c.2280_2281delinsCT ENSP00000453513.2:p.Val760=
ENST00000558518.6:c.2400_2401delinsCT MANE Select ENSP00000454071.1:p.Val800=
ENST00000252444.9:c.2654_2655delinsCT
ENST00000455727.6:c.1896_1897delinsCT ENSP00000397829.2:p.Val632=
ENST00000535915.5:c.2277_2278delinsCT ENSP00000440520.1:p.Val759=
ENST00000545707.5:c.1866_1867delinsCT ENSP00000437639.1:p.Val622=
ENST00000557933.5:c.2462_2463delinsCT ENSP00000453557.1:p.Ser821=
ENST00000558013.5:c.2400_2401delinsCT ENSP00000453346.1:p.Val800=
ENST00000558518.5:c.2400_2401delinsCT ENSP00000454071.1:p.Val800=
ENST00000560628.1:n.108+1869_108+1870delinsCT
NM_000527.4:c.2400_2401delinsCT , LRG_274t1:c.2400_2401delinsCT NP_000518.1:p.Val800=
NM_001195798.1:c.2400_2401delinsCT NP_001182727.1:p.Val800=
NM_001195799.1:c.2277_2278delinsCT NP_001182728.1:p.Val759=
NM_001195800.1:c.1896_1897delinsCT NP_001182729.1:p.Val632=
NM_001195803.1:c.1866_1867delinsCT NP_001182732.1:p.Val622=
XM_011528010.1:c.2322_2323delinsCT XP_011526312.1:p.Val774=
XM_011528011.1:c.2019_2020delinsCT XP_011526313.1:p.Val673=
XR_244074.2:n.2410_2411delinsCT
XM_011528010.2:c.2322_2323delinsCT XP_011526312.1:p.Val774=
XR_001753685.2:n.2734_2735delinsCT
XR_001753686.2:n.2377_2378delinsCT
NM_000527.5:c.2400_2401delinsCT MANE Select NP_000518.1:p.Val800=
NM_001195798.2:c.2400_2401delinsCT NP_001182727.1:p.Val800=
NM_001195799.2:c.2277_2278delinsCT NP_001182728.1:p.Val759=
NM_001195800.2:c.1896_1897delinsCT NP_001182729.1:p.Val632=
NM_001195803.2:c.1866_1867delinsCT NP_001182732.1:p.Val622=