Canonical Allele Identifier: CA2322773680
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116903_11116904delinsTC , CM000681.2:g.11116903_11116904delinsTC GRCh38
NC_000019.9:g.11227579_11227580delinsTC , CM000681.1:g.11227579_11227580delinsTC GRCh37
NC_000019.8:g.11088579_11088580delinsTC NCBI36
NG_009060.1:g.32523_32524delinsTC , LRG_274:g.32523_32524delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2008_2009delinsTC ENSP00000252444.6:p.Ser670=
ENST00000559340.2:c.1705+691_1705+692delinsTC ENSP00000453696.2:n.1705+691_1705+692delinsTC
ENST00000560467.2:c.1630_1631delinsTC ENSP00000453513.2:p.Ser544=
ENST00000558518.6:c.1750_1751delinsTC MANE Select ENSP00000454071.1:p.Ser584=
ENST00000252444.9:c.2004_2005delinsTC
ENST00000455727.6:c.1246_1247delinsTC ENSP00000397829.2:p.Ser416=
ENST00000535915.5:c.1627_1628delinsTC ENSP00000440520.1:p.Ser543=
ENST00000545707.5:c.1369_1370delinsTC ENSP00000437639.1:p.Ser457=
ENST00000557933.5:c.1750_1751delinsTC ENSP00000453557.1:p.Ser584=
ENST00000558013.5:c.1750_1751delinsTC ENSP00000453346.1:p.Ser584=
ENST00000558518.5:c.1750_1751delinsTC ENSP00000454071.1:p.Ser584=
ENST00000559340.1:c.426+691_426+692delinsTC
NM_000527.4:c.1750_1751delinsTC , LRG_274t1:c.1750_1751delinsTC NP_000518.1:p.Ser584=
NM_001195798.1:c.1750_1751delinsTC NP_001182727.1:p.Ser584=
NM_001195799.1:c.1627_1628delinsTC NP_001182728.1:p.Ser543=
NM_001195800.1:c.1246_1247delinsTC NP_001182729.1:p.Ser416=
NM_001195803.1:c.1369_1370delinsTC NP_001182732.1:p.Ser457=
XM_011528010.1:c.1750_1751delinsTC XP_011526312.1:p.Ser584=
XM_011528011.1:c.1369_1370delinsTC XP_011526313.1:p.Ser457=
XR_244074.2:n.1855+691_1855+692delinsTC
XM_011528010.2:c.1750_1751delinsTC XP_011526312.1:p.Ser584=
XR_001753685.2:n.1867_1868delinsTC
XR_001753686.2:n.1822+691_1822+692delinsTC
NM_000527.5:c.1750_1751delinsTC MANE Select NP_000518.1:p.Ser584=
NM_001195798.2:c.1750_1751delinsTC NP_001182727.1:p.Ser584=
NM_001195799.2:c.1627_1628delinsTC NP_001182728.1:p.Ser543=
NM_001195800.2:c.1246_1247delinsTC NP_001182729.1:p.Ser416=
NM_001195803.2:c.1369_1370delinsTC NP_001182732.1:p.Ser457=