Canonical Allele Identifier: CA2322766038
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102743_11102744delinsTG , CM000681.2:g.11102743_11102744delinsTG GRCh38
NC_000019.9:g.11213419_11213420delinsTG , CM000681.1:g.11213419_11213420delinsTG GRCh37
NC_000019.8:g.11074419_11074420delinsTG NCBI36
NG_009060.1:g.18363_18364delinsTG , LRG_274:g.18363_18364delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.528_529delinsTG ENSP00000252444.6:p.Asp176=
ENST00000559340.2:c.270_271delinsTG ENSP00000453696.2:p.Asp90=
ENST00000560467.2:c.270_271delinsTG ENSP00000453513.2:p.Asp90=
ENST00000558518.6:c.270_271delinsTG MANE Select ENSP00000454071.1:p.Asp90=
ENST00000252444.9:c.524_525delinsTG
ENST00000455727.6:c.270_271delinsTG ENSP00000397829.2:p.Asp90=
ENST00000535915.5:c.190+2398_190+2399delinsTG ENSP00000440520.1:n.190+2398_190+2399delinsTG
ENST00000545707.5:c.270_271delinsTG ENSP00000437639.1:p.Asp90=
ENST00000557933.5:c.270_271delinsTG ENSP00000453557.1:p.Asp90=
ENST00000557958.1:n.356_357delinsTG
ENST00000558013.5:c.270_271delinsTG ENSP00000453346.1:p.Asp90=
ENST00000558518.5:c.270_271delinsTG ENSP00000454071.1:p.Asp90=
NM_000527.4:c.270_271delinsTG , LRG_274t1:c.270_271delinsTG NP_000518.1:p.Asp90=
NM_001195798.1:c.270_271delinsTG NP_001182727.1:p.Asp90=
NM_001195799.1:c.190+2398_190+2399delinsTG NP_001182728.1:n.190+2398_190+2399delinsTG
NM_001195800.1:c.270_271delinsTG NP_001182729.1:p.Asp90=
NM_001195803.1:c.270_271delinsTG NP_001182732.1:p.Asp90=
XM_011528010.1:c.270_271delinsTG XP_011526312.1:p.Asp90=
XM_011528011.1:c.270_271delinsTG XP_011526313.1:p.Asp90=
XR_244074.2:n.420_421delinsTG
XM_011528010.2:c.270_271delinsTG XP_011526312.1:p.Asp90=
XR_001753685.2:n.387_388delinsTG
XR_001753686.2:n.387_388delinsTG
NM_000527.5:c.270_271delinsTG MANE Select NP_000518.1:p.Asp90=
NM_001195798.2:c.270_271delinsTG NP_001182727.1:p.Asp90=
NM_001195799.2:c.190+2398_190+2399delinsTG NP_001182728.1:n.190+2398_190+2399delinsTG
NM_001195800.2:c.270_271delinsTG NP_001182729.1:p.Asp90=
NM_001195803.2:c.270_271delinsTG NP_001182732.1:p.Asp90=