Canonical Allele Identifier: CA2322768604
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107453_11107455delinsCAA , CM000681.2:g.11107453_11107455delinsCAA GRCh38
NC_000019.9:g.11218129_11218131delinsCAA , CM000681.1:g.11218129_11218131delinsCAA GRCh37
NC_000019.8:g.11079129_11079131delinsCAA NCBI36
NG_009060.1:g.23073_23075delinsCAA , LRG_274:g.23073_23075delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1137_1139delinsCAA ENSP00000252444.6:p.Asp379=
ENST00000559340.2:c.879_881delinsCAA ENSP00000453696.2:p.Asp293=
ENST00000560467.2:c.879_881delinsCAA ENSP00000453513.2:p.Asp293=
ENST00000558518.6:c.879_881delinsCAA MANE Select ENSP00000454071.1:p.Asp293=
ENST00000252444.9:c.1133_1135delinsCAA
ENST00000455727.6:c.375_377delinsCAA ENSP00000397829.2:p.Asp125=
ENST00000535915.5:c.756_758delinsCAA ENSP00000440520.1:p.Asp252=
ENST00000545707.5:c.498_500delinsCAA ENSP00000437639.1:p.Asp166=
ENST00000557933.5:c.879_881delinsCAA ENSP00000453557.1:p.Asp293=
ENST00000558013.5:c.879_881delinsCAA ENSP00000453346.1:p.Asp293=
ENST00000558518.5:c.879_881delinsCAA ENSP00000454071.1:p.Asp293=
ENST00000558528.1:n.394_396delinsCAA
ENST00000560467.1:c.479_481delinsCAA
NM_000527.4:c.879_881delinsCAA , LRG_274t1:c.879_881delinsCAA NP_000518.1:p.Asp293=
NM_001195798.1:c.879_881delinsCAA NP_001182727.1:p.Asp293=
NM_001195799.1:c.756_758delinsCAA NP_001182728.1:p.Asp252=
NM_001195800.1:c.375_377delinsCAA NP_001182729.1:p.Asp125=
NM_001195803.1:c.498_500delinsCAA NP_001182732.1:p.Asp166=
XM_011528010.1:c.879_881delinsCAA XP_011526312.1:p.Asp293=
XM_011528011.1:c.498_500delinsCAA XP_011526313.1:p.Asp166=
XR_244074.2:n.1029_1031delinsCAA
XM_011528010.2:c.879_881delinsCAA XP_011526312.1:p.Asp293=
XR_001753685.2:n.996_998delinsCAA
XR_001753686.2:n.996_998delinsCAA
NM_000527.5:c.879_881delinsCAA MANE Select NP_000518.1:p.Asp293=
NM_001195798.2:c.879_881delinsCAA NP_001182727.1:p.Asp293=
NM_001195799.2:c.756_758delinsCAA NP_001182728.1:p.Asp252=
NM_001195800.2:c.375_377delinsCAA NP_001182729.1:p.Asp125=
NM_001195803.2:c.498_500delinsCAA NP_001182732.1:p.Asp166=