Canonical Allele Identifier: CA2322771886
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113551_11113555delinsGCCCA , CM000681.2:g.11113551_11113555delinsGCCCA GRCh38
NC_000019.9:g.11224227_11224231delinsGCCCA , CM000681.1:g.11224227_11224231delinsGCCCA GRCh37
NC_000019.8:g.11085227_11085231delinsGCCCA NCBI36
NG_009060.1:g.29171_29175delinsGCCCA , LRG_274:g.29171_29175delinsGCCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1633_1637delinsGCCCA ENSP00000252444.6:p.Ala545=
ENST00000559340.2:c.1375_1379delinsGCCCA ENSP00000453696.2:p.Ala459=
ENST00000560467.2:c.1255_1259delinsGCCCA ENSP00000453513.2:p.Ala419=
ENST00000558518.6:c.1375_1379delinsGCCCA MANE Select ENSP00000454071.1:p.Ala459=
ENST00000252444.9:c.1629_1633delinsGCCCA
ENST00000455727.6:c.871_875delinsGCCCA ENSP00000397829.2:p.Ala291=
ENST00000535915.5:c.1252_1256delinsGCCCA ENSP00000440520.1:p.Ala418=
ENST00000545707.5:c.994_998delinsGCCCA ENSP00000437639.1:p.Ala332=
ENST00000557933.5:c.1375_1379delinsGCCCA ENSP00000453557.1:p.Ala459=
ENST00000558013.5:c.1375_1379delinsGCCCA ENSP00000453346.1:p.Ala459=
ENST00000558518.5:c.1375_1379delinsGCCCA ENSP00000454071.1:p.Ala459=
ENST00000559340.1:c.96_100delinsGCCCA
ENST00000560467.1:c.855_859delinsGCCCA
NM_000527.4:c.1375_1379delinsGCCCA , LRG_274t1:c.1375_1379delinsGCCCA NP_000518.1:p.Ala459=
NM_001195798.1:c.1375_1379delinsGCCCA NP_001182727.1:p.Ala459=
NM_001195799.1:c.1252_1256delinsGCCCA NP_001182728.1:p.Ala418=
NM_001195800.1:c.871_875delinsGCCCA NP_001182729.1:p.Ala291=
NM_001195803.1:c.994_998delinsGCCCA NP_001182732.1:p.Ala332=
XM_011528010.1:c.1375_1379delinsGCCCA XP_011526312.1:p.Ala459=
XM_011528011.1:c.994_998delinsGCCCA XP_011526313.1:p.Ala332=
XR_244074.2:n.1525_1529delinsGCCCA
XM_011528010.2:c.1375_1379delinsGCCCA XP_011526312.1:p.Ala459=
XR_001753685.2:n.1492_1496delinsGCCCA
XR_001753686.2:n.1492_1496delinsGCCCA
NM_000527.5:c.1375_1379delinsGCCCA MANE Select NP_000518.1:p.Ala459=
NM_001195798.2:c.1375_1379delinsGCCCA NP_001182727.1:p.Ala459=
NM_001195799.2:c.1252_1256delinsGCCCA NP_001182728.1:p.Ala418=
NM_001195800.2:c.871_875delinsGCCCA NP_001182729.1:p.Ala291=
NM_001195803.2:c.994_998delinsGCCCA NP_001182732.1:p.Ala332=