Canonical Allele Identifier: CA2322771967
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113649_11113650delinsCG , CM000681.2:g.11113649_11113650delinsCG GRCh38
NC_000019.9:g.11224325_11224326delinsCG , CM000681.1:g.11224325_11224326delinsCG GRCh37
NC_000019.8:g.11085325_11085326delinsCG NCBI36
NG_009060.1:g.29269_29270delinsCG , LRG_274:g.29269_29270delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1731_1732delinsCG ENSP00000252444.6:p.Thr577=
ENST00000559340.2:c.1473_1474delinsCG ENSP00000453696.2:p.Thr491=
ENST00000560467.2:c.1353_1354delinsCG ENSP00000453513.2:p.Thr451=
ENST00000558518.6:c.1473_1474delinsCG MANE Select ENSP00000454071.1:p.Thr491=
ENST00000252444.9:c.1727_1728delinsCG
ENST00000455727.6:c.969_970delinsCG ENSP00000397829.2:p.Thr323=
ENST00000535915.5:c.1350_1351delinsCG ENSP00000440520.1:p.Thr450=
ENST00000545707.5:c.1092_1093delinsCG ENSP00000437639.1:p.Thr364=
ENST00000557933.5:c.1473_1474delinsCG ENSP00000453557.1:p.Thr491=
ENST00000558013.5:c.1473_1474delinsCG ENSP00000453346.1:p.Thr491=
ENST00000558518.5:c.1473_1474delinsCG ENSP00000454071.1:p.Thr491=
ENST00000559340.1:c.194_195delinsCG
NM_000527.4:c.1473_1474delinsCG , LRG_274t1:c.1473_1474delinsCG NP_000518.1:p.Thr491=
NM_001195798.1:c.1473_1474delinsCG NP_001182727.1:p.Thr491=
NM_001195799.1:c.1350_1351delinsCG NP_001182728.1:p.Thr450=
NM_001195800.1:c.969_970delinsCG NP_001182729.1:p.Thr323=
NM_001195803.1:c.1092_1093delinsCG NP_001182732.1:p.Thr364=
XM_011528010.1:c.1473_1474delinsCG XP_011526312.1:p.Thr491=
XM_011528011.1:c.1092_1093delinsCG XP_011526313.1:p.Thr364=
XR_244074.2:n.1623_1624delinsCG
XM_011528010.2:c.1473_1474delinsCG XP_011526312.1:p.Thr491=
XR_001753685.2:n.1590_1591delinsCG
XR_001753686.2:n.1590_1591delinsCG
NM_000527.5:c.1473_1474delinsCG MANE Select NP_000518.1:p.Thr491=
NM_001195798.2:c.1473_1474delinsCG NP_001182727.1:p.Thr491=
NM_001195799.2:c.1350_1351delinsCG NP_001182728.1:p.Thr450=
NM_001195800.2:c.969_970delinsCG NP_001182729.1:p.Thr323=
NM_001195803.2:c.1092_1093delinsCG NP_001182732.1:p.Thr364=