Canonical Allele Identifier: CA2322780335
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129668_11129669delinsTC , CM000681.2:g.11129668_11129669delinsTC GRCh38
NC_000019.9:g.11240344_11240345delinsTC , CM000681.1:g.11240344_11240345delinsTC GRCh37
NC_000019.8:g.11101344_11101345delinsTC NCBI36
NG_009060.1:g.45288_45289delinsTC , LRG_274:g.45288_45289delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2803_2804delinsTC ENSP00000252444.6:p.Ser935=
ENST00000559340.2:c.*614_*615delinsTC ENSP00000453696.2:n.*614_*615delinsTC
ENST00000560467.2:c.2425_2426delinsTC ENSP00000453513.2:p.Ser809=
ENST00000558518.6:c.2545_2546delinsTC MANE Select ENSP00000454071.1:p.Ser849=
ENST00000252444.9:c.2799_2800delinsTC
ENST00000455727.6:c.2041_2042delinsTC ENSP00000397829.2:p.Ser681=
ENST00000535915.5:c.2422_2423delinsTC ENSP00000440520.1:p.Ser808=
ENST00000545707.5:c.2011_2012delinsTC ENSP00000437639.1:p.Ser671=
ENST00000557933.5:c.2607_2608delinsTC ENSP00000453557.1:p.Pro869=
ENST00000558013.5:c.2545_2546delinsTC ENSP00000453346.1:p.Ser849=
ENST00000558518.5:c.2545_2546delinsTC ENSP00000454071.1:p.Ser849=
ENST00000560628.1:n.108+2014_108+2015delinsTC
NM_000527.4:c.2545_2546delinsTC , LRG_274t1:c.2545_2546delinsTC NP_000518.1:p.Ser849=
NM_001195798.1:c.2545_2546delinsTC NP_001182727.1:p.Ser849=
NM_001195799.1:c.2422_2423delinsTC NP_001182728.1:p.Ser808=
NM_001195800.1:c.2041_2042delinsTC NP_001182729.1:p.Ser681=
NM_001195803.1:c.2011_2012delinsTC NP_001182732.1:p.Ser671=
XM_011528010.1:c.2467_2468delinsTC XP_011526312.1:p.Ser823=
XM_011528011.1:c.2164_2165delinsTC XP_011526313.1:p.Ser722=
XM_011528010.2:c.2467_2468delinsTC XP_011526312.1:p.Ser823=
XR_001753685.2:n.2879_2880delinsTC
XR_001753686.2:n.2522_2523delinsTC
NM_000527.5:c.2545_2546delinsTC MANE Select NP_000518.1:p.Ser849=
NM_001195798.2:c.2545_2546delinsTC NP_001182727.1:p.Ser849=
NM_001195799.2:c.2422_2423delinsTC NP_001182728.1:p.Ser808=
NM_001195800.2:c.2041_2042delinsTC NP_001182729.1:p.Ser681=
NM_001195803.2:c.2011_2012delinsTC NP_001182732.1:p.Ser671=