Canonical Allele Identifier: CA2322772019
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113705_11113706delinsCG , CM000681.2:g.11113705_11113706delinsCG GRCh38
NC_000019.9:g.11224381_11224382delinsCG , CM000681.1:g.11224381_11224382delinsCG GRCh37
NC_000019.8:g.11085381_11085382delinsCG NCBI36
NG_009060.1:g.29325_29326delinsCG , LRG_274:g.29325_29326delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1787_1788delinsCG ENSP00000252444.6:p.Thr596=
ENST00000559340.2:c.1529_1530delinsCG ENSP00000453696.2:p.Thr510=
ENST00000560467.2:c.1409_1410delinsCG ENSP00000453513.2:p.Thr470=
ENST00000558518.6:c.1529_1530delinsCG MANE Select ENSP00000454071.1:p.Thr510=
ENST00000252444.9:c.1783_1784delinsCG
ENST00000455727.6:c.1025_1026delinsCG ENSP00000397829.2:p.Thr342=
ENST00000535915.5:c.1406_1407delinsCG ENSP00000440520.1:p.Thr469=
ENST00000545707.5:c.1148_1149delinsCG ENSP00000437639.1:p.Thr383=
ENST00000557933.5:c.1529_1530delinsCG ENSP00000453557.1:p.Thr510=
ENST00000558013.5:c.1529_1530delinsCG ENSP00000453346.1:p.Thr510=
ENST00000558518.5:c.1529_1530delinsCG ENSP00000454071.1:p.Thr510=
ENST00000559340.1:c.250_251delinsCG
NM_000527.4:c.1529_1530delinsCG , LRG_274t1:c.1529_1530delinsCG NP_000518.1:p.Thr510=
NM_001195798.1:c.1529_1530delinsCG NP_001182727.1:p.Thr510=
NM_001195799.1:c.1406_1407delinsCG NP_001182728.1:p.Thr469=
NM_001195800.1:c.1025_1026delinsCG NP_001182729.1:p.Thr342=
NM_001195803.1:c.1148_1149delinsCG NP_001182732.1:p.Thr383=
XM_011528010.1:c.1529_1530delinsCG XP_011526312.1:p.Thr510=
XM_011528011.1:c.1148_1149delinsCG XP_011526313.1:p.Thr383=
XR_244074.2:n.1679_1680delinsCG
XM_011528010.2:c.1529_1530delinsCG XP_011526312.1:p.Thr510=
XR_001753685.2:n.1646_1647delinsCG
XR_001753686.2:n.1646_1647delinsCG
NM_000527.5:c.1529_1530delinsCG MANE Select NP_000518.1:p.Thr510=
NM_001195798.2:c.1529_1530delinsCG NP_001182727.1:p.Thr510=
NM_001195799.2:c.1406_1407delinsCG NP_001182728.1:p.Thr469=
NM_001195800.2:c.1025_1026delinsCG NP_001182729.1:p.Thr342=
NM_001195803.2:c.1148_1149delinsCG NP_001182732.1:p.Thr383=