Canonical Allele Identifier: CA2322770782
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111624_11111625delinsGC , CM000681.2:g.11111624_11111625delinsGC GRCh38
NC_000019.9:g.11222300_11222301delinsGC , CM000681.1:g.11222300_11222301delinsGC GRCh37
NC_000019.8:g.11083300_11083301delinsGC NCBI36
NG_009060.1:g.27244_27245delinsGC , LRG_274:g.27244_27245delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1429_1430delinsGC ENSP00000252444.6:p.Ala477=
ENST00000559340.2:c.1171_1172delinsGC ENSP00000453696.2:p.Ala391=
ENST00000560467.2:c.1051_1052delinsGC ENSP00000453513.2:p.Ala351=
ENST00000558518.6:c.1171_1172delinsGC MANE Select ENSP00000454071.1:p.Ala391=
ENST00000252444.9:c.1425_1426delinsGC
ENST00000455727.6:c.667_668delinsGC ENSP00000397829.2:p.Ala223=
ENST00000535915.5:c.1048_1049delinsGC ENSP00000440520.1:p.Ala350=
ENST00000545707.5:c.790_791delinsGC ENSP00000437639.1:p.Ala264=
ENST00000557933.5:c.1171_1172delinsGC ENSP00000453557.1:p.Ala391=
ENST00000558013.5:c.1171_1172delinsGC ENSP00000453346.1:p.Ala391=
ENST00000558518.5:c.1171_1172delinsGC ENSP00000454071.1:p.Ala391=
ENST00000560173.1:n.170_171delinsGC
ENST00000560467.1:c.651_652delinsGC
NM_000527.4:c.1171_1172delinsGC , LRG_274t1:c.1171_1172delinsGC NP_000518.1:p.Ala391=
NM_001195798.1:c.1171_1172delinsGC NP_001182727.1:p.Ala391=
NM_001195799.1:c.1048_1049delinsGC NP_001182728.1:p.Ala350=
NM_001195800.1:c.667_668delinsGC NP_001182729.1:p.Ala223=
NM_001195803.1:c.790_791delinsGC NP_001182732.1:p.Ala264=
XM_011528010.1:c.1171_1172delinsGC XP_011526312.1:p.Ala391=
XM_011528011.1:c.790_791delinsGC XP_011526313.1:p.Ala264=
XR_244074.2:n.1321_1322delinsGC
XM_011528010.2:c.1171_1172delinsGC XP_011526312.1:p.Ala391=
XR_001753685.2:n.1288_1289delinsGC
XR_001753686.2:n.1288_1289delinsGC
NM_000527.5:c.1171_1172delinsGC MANE Select NP_000518.1:p.Ala391=
NM_001195798.2:c.1171_1172delinsGC NP_001182727.1:p.Ala391=
NM_001195799.2:c.1048_1049delinsGC NP_001182728.1:p.Ala350=
NM_001195800.2:c.667_668delinsGC NP_001182729.1:p.Ala223=
NM_001195803.2:c.790_791delinsGC NP_001182732.1:p.Ala264=