Canonical Allele Identifier: CA2322770244
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110687_11110688delinsTC , CM000681.2:g.11110687_11110688delinsTC GRCh38
NC_000019.9:g.11221363_11221364delinsTC , CM000681.1:g.11221363_11221364delinsTC GRCh37
NC_000019.8:g.11082363_11082364delinsTC NCBI36
NG_009060.1:g.26307_26308delinsTC , LRG_274:g.26307_26308delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1234_1235delinsTC ENSP00000252444.6:p.Ser412=
ENST00000559340.2:c.976_977delinsTC ENSP00000453696.2:p.Ser326=
ENST00000560467.2:c.941-827_941-826delinsTC ENSP00000453513.2:n.941-827_941-826delinsTC
ENST00000558518.6:c.976_977delinsTC MANE Select ENSP00000454071.1:p.Ser326=
ENST00000252444.9:c.1230_1231delinsTC
ENST00000455727.6:c.472_473delinsTC ENSP00000397829.2:p.Ser158=
ENST00000535915.5:c.853_854delinsTC ENSP00000440520.1:p.Ser285=
ENST00000545707.5:c.595_596delinsTC ENSP00000437639.1:p.Ser199=
ENST00000557933.5:c.976_977delinsTC ENSP00000453557.1:p.Ser326=
ENST00000558013.5:c.976_977delinsTC ENSP00000453346.1:p.Ser326=
ENST00000558518.5:c.976_977delinsTC ENSP00000454071.1:p.Ser326=
ENST00000560467.1:c.541-827_541-826delinsTC
NM_000527.4:c.976_977delinsTC , LRG_274t1:c.976_977delinsTC NP_000518.1:p.Ser326=
NM_001195798.1:c.976_977delinsTC NP_001182727.1:p.Ser326=
NM_001195799.1:c.853_854delinsTC NP_001182728.1:p.Ser285=
NM_001195800.1:c.472_473delinsTC NP_001182729.1:p.Ser158=
NM_001195803.1:c.595_596delinsTC NP_001182732.1:p.Ser199=
XM_011528010.1:c.976_977delinsTC XP_011526312.1:p.Ser326=
XM_011528011.1:c.595_596delinsTC XP_011526313.1:p.Ser199=
XR_244074.2:n.1126_1127delinsTC
XM_011528010.2:c.976_977delinsTC XP_011526312.1:p.Ser326=
XR_001753685.2:n.1093_1094delinsTC
XR_001753686.2:n.1093_1094delinsTC
NM_000527.5:c.976_977delinsTC MANE Select NP_000518.1:p.Ser326=
NM_001195798.2:c.976_977delinsTC NP_001182727.1:p.Ser326=
NM_001195799.2:c.853_854delinsTC NP_001182728.1:p.Ser285=
NM_001195800.2:c.472_473delinsTC NP_001182729.1:p.Ser158=
NM_001195803.2:c.595_596delinsTC NP_001182732.1:p.Ser199=