Canonical Allele Identifier: CA2322771744
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113359_11113360delinsTC , CM000681.2:g.11113359_11113360delinsTC GRCh38
NC_000019.9:g.11224035_11224036delinsTC , CM000681.1:g.11224035_11224036delinsTC GRCh37
NC_000019.8:g.11085035_11085036delinsTC NCBI36
NG_009060.1:g.28979_28980delinsTC , LRG_274:g.28979_28980delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1526_1527delinsTC ENSP00000252444.6:p.Ile509=
ENST00000559340.2:c.1268_1269delinsTC ENSP00000453696.2:p.Ile423=
ENST00000560467.2:c.1148_1149delinsTC ENSP00000453513.2:p.Ile383=
ENST00000558518.6:c.1268_1269delinsTC MANE Select ENSP00000454071.1:p.Ile423=
ENST00000252444.9:c.1522_1523delinsTC
ENST00000455727.6:c.764_765delinsTC ENSP00000397829.2:p.Ile255=
ENST00000535915.5:c.1145_1146delinsTC ENSP00000440520.1:p.Ile382=
ENST00000545707.5:c.887_888delinsTC ENSP00000437639.1:p.Ile296=
ENST00000557933.5:c.1268_1269delinsTC ENSP00000453557.1:p.Ile423=
ENST00000558013.5:c.1268_1269delinsTC ENSP00000453346.1:p.Ile423=
ENST00000558518.5:c.1268_1269delinsTC ENSP00000454071.1:p.Ile423=
ENST00000560173.1:n.267_268delinsTC
ENST00000560467.1:c.748_749delinsTC
NM_000527.4:c.1268_1269delinsTC , LRG_274t1:c.1268_1269delinsTC NP_000518.1:p.Ile423=
NM_001195798.1:c.1268_1269delinsTC NP_001182727.1:p.Ile423=
NM_001195799.1:c.1145_1146delinsTC NP_001182728.1:p.Ile382=
NM_001195800.1:c.764_765delinsTC NP_001182729.1:p.Ile255=
NM_001195803.1:c.887_888delinsTC NP_001182732.1:p.Ile296=
XM_011528010.1:c.1268_1269delinsTC XP_011526312.1:p.Ile423=
XM_011528011.1:c.887_888delinsTC XP_011526313.1:p.Ile296=
XR_244074.2:n.1418_1419delinsTC
XM_011528010.2:c.1268_1269delinsTC XP_011526312.1:p.Ile423=
XR_001753685.2:n.1385_1386delinsTC
XR_001753686.2:n.1385_1386delinsTC
NM_000527.5:c.1268_1269delinsTC MANE Select NP_000518.1:p.Ile423=
NM_001195798.2:c.1268_1269delinsTC NP_001182727.1:p.Ile423=
NM_001195799.2:c.1145_1146delinsTC NP_001182728.1:p.Ile382=
NM_001195800.2:c.764_765delinsTC NP_001182729.1:p.Ile255=
NM_001195803.2:c.887_888delinsTC NP_001182732.1:p.Ile296=