Canonical Allele Identifier: CA2322768567
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107396_11107398delinsACT , CM000681.2:g.11107396_11107398delinsACT GRCh38
NC_000019.9:g.11218072_11218074delinsACT , CM000681.1:g.11218072_11218074delinsACT GRCh37
NC_000019.8:g.11079072_11079074delinsACT NCBI36
NG_009060.1:g.23016_23018delinsACT , LRG_274:g.23016_23018delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1080_1082delinsACT ENSP00000252444.6:p.Thr360=
ENST00000559340.2:c.822_824delinsACT ENSP00000453696.2:p.Thr274=
ENST00000560467.2:c.822_824delinsACT ENSP00000453513.2:p.Thr274=
ENST00000558518.6:c.822_824delinsACT MANE Select ENSP00000454071.1:p.Thr274=
ENST00000252444.9:c.1076_1078delinsACT
ENST00000455727.6:c.318_320delinsACT ENSP00000397829.2:p.Thr106=
ENST00000535915.5:c.699_701delinsACT ENSP00000440520.1:p.Thr233=
ENST00000545707.5:c.441_443delinsACT ENSP00000437639.1:p.Thr147=
ENST00000557933.5:c.822_824delinsACT ENSP00000453557.1:p.Thr274=
ENST00000558013.5:c.822_824delinsACT ENSP00000453346.1:p.Thr274=
ENST00000558518.5:c.822_824delinsACT ENSP00000454071.1:p.Thr274=
ENST00000558528.1:n.337_339delinsACT
ENST00000560467.1:c.422_424delinsACT
NM_000527.4:c.822_824delinsACT , LRG_274t1:c.822_824delinsACT NP_000518.1:p.Thr274=
NM_001195798.1:c.822_824delinsACT NP_001182727.1:p.Thr274=
NM_001195799.1:c.699_701delinsACT NP_001182728.1:p.Thr233=
NM_001195800.1:c.318_320delinsACT NP_001182729.1:p.Thr106=
NM_001195803.1:c.441_443delinsACT NP_001182732.1:p.Thr147=
XM_011528010.1:c.822_824delinsACT XP_011526312.1:p.Thr274=
XM_011528011.1:c.441_443delinsACT XP_011526313.1:p.Thr147=
XR_244074.2:n.972_974delinsACT
XM_011528010.2:c.822_824delinsACT XP_011526312.1:p.Thr274=
XR_001753685.2:n.939_941delinsACT
XR_001753686.2:n.939_941delinsACT
NM_000527.5:c.822_824delinsACT MANE Select NP_000518.1:p.Thr274=
NM_001195798.2:c.822_824delinsACT NP_001182727.1:p.Thr274=
NM_001195799.2:c.699_701delinsACT NP_001182728.1:p.Thr233=
NM_001195800.2:c.318_320delinsACT NP_001182729.1:p.Thr106=
NM_001195803.2:c.441_443delinsACT NP_001182732.1:p.Thr147=