Canonical Allele Identifier: CA2322777248
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123303_11123304delinsCT , CM000681.2:g.11123303_11123304delinsCT GRCh38
NC_000019.9:g.11233979_11233980delinsCT , CM000681.1:g.11233979_11233980delinsCT GRCh37
NC_000019.8:g.11094979_11094980delinsCT NCBI36
NG_009060.1:g.38923_38924delinsCT , LRG_274:g.38923_38924delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2528_2529delinsCT ENSP00000252444.6:p.Pro843=
ENST00000559340.2:c.*339_*340delinsCT ENSP00000453696.2:n.*339_*340delinsCT
ENST00000560467.2:c.2150_2151delinsCT ENSP00000453513.2:p.Pro717=
ENST00000558518.6:c.2270_2271delinsCT MANE Select ENSP00000454071.1:p.Pro757=
ENST00000252444.9:c.2524_2525delinsCT
ENST00000455727.6:c.1766_1767delinsCT ENSP00000397829.2:p.Pro589=
ENST00000535915.5:c.2147_2148delinsCT ENSP00000440520.1:p.Pro716=
ENST00000545707.5:c.1736_1737delinsCT ENSP00000437639.1:p.Pro579=
ENST00000557933.5:c.2270_2271delinsCT ENSP00000453557.1:p.Pro757=
ENST00000558013.5:c.2270_2271delinsCT ENSP00000453346.1:p.Pro757=
ENST00000558518.5:c.2270_2271delinsCT ENSP00000454071.1:p.Pro757=
NM_000527.4:c.2270_2271delinsCT , LRG_274t1:c.2270_2271delinsCT NP_000518.1:p.Pro757=
NM_001195798.1:c.2270_2271delinsCT NP_001182727.1:p.Pro757=
NM_001195799.1:c.2147_2148delinsCT NP_001182728.1:p.Pro716=
NM_001195800.1:c.1766_1767delinsCT NP_001182729.1:p.Pro589=
NM_001195803.1:c.1736_1737delinsCT NP_001182732.1:p.Pro579=
XM_011528010.1:c.2270_2271delinsCT XP_011526312.1:p.Pro757=
XM_011528011.1:c.1889_1890delinsCT XP_011526313.1:p.Pro630=
XR_244074.2:n.2280_2281delinsCT
XM_011528010.2:c.2270_2271delinsCT XP_011526312.1:p.Pro757=
XR_001753685.2:n.2604_2605delinsCT
XR_001753686.2:n.2247_2248delinsCT
NM_000527.5:c.2270_2271delinsCT MANE Select NP_000518.1:p.Pro757=
NM_001195798.2:c.2270_2271delinsCT NP_001182727.1:p.Pro757=
NM_001195799.2:c.2147_2148delinsCT NP_001182728.1:p.Pro716=
NM_001195800.2:c.1766_1767delinsCT NP_001182729.1:p.Pro589=
NM_001195803.2:c.1736_1737delinsCT NP_001182732.1:p.Pro579=