Canonical Allele Identifier: CA2322777232
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123281_11123282delinsTC , CM000681.2:g.11123281_11123282delinsTC GRCh38
NC_000019.9:g.11233957_11233958delinsTC , CM000681.1:g.11233957_11233958delinsTC GRCh37
NC_000019.8:g.11094957_11094958delinsTC NCBI36
NG_009060.1:g.38901_38902delinsTC , LRG_274:g.38901_38902delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2506_2507delinsTC ENSP00000252444.6:p.Ser836=
ENST00000559340.2:c.*317_*318delinsTC ENSP00000453696.2:n.*317_*318delinsTC
ENST00000560467.2:c.2128_2129delinsTC ENSP00000453513.2:p.Ser710=
ENST00000558518.6:c.2248_2249delinsTC MANE Select ENSP00000454071.1:p.Ser750=
ENST00000252444.9:c.2502_2503delinsTC
ENST00000455727.6:c.1744_1745delinsTC ENSP00000397829.2:p.Ser582=
ENST00000535915.5:c.2125_2126delinsTC ENSP00000440520.1:p.Ser709=
ENST00000545707.5:c.1714_1715delinsTC ENSP00000437639.1:p.Ser572=
ENST00000557933.5:c.2248_2249delinsTC ENSP00000453557.1:p.Ser750=
ENST00000558013.5:c.2248_2249delinsTC ENSP00000453346.1:p.Ser750=
ENST00000558518.5:c.2248_2249delinsTC ENSP00000454071.1:p.Ser750=
NM_000527.4:c.2248_2249delinsTC , LRG_274t1:c.2248_2249delinsTC NP_000518.1:p.Ser750=
NM_001195798.1:c.2248_2249delinsTC NP_001182727.1:p.Ser750=
NM_001195799.1:c.2125_2126delinsTC NP_001182728.1:p.Ser709=
NM_001195800.1:c.1744_1745delinsTC NP_001182729.1:p.Ser582=
NM_001195803.1:c.1714_1715delinsTC NP_001182732.1:p.Ser572=
XM_011528010.1:c.2248_2249delinsTC XP_011526312.1:p.Ser750=
XM_011528011.1:c.1867_1868delinsTC XP_011526313.1:p.Ser623=
XR_244074.2:n.2258_2259delinsTC
XM_011528010.2:c.2248_2249delinsTC XP_011526312.1:p.Ser750=
XR_001753685.2:n.2582_2583delinsTC
XR_001753686.2:n.2225_2226delinsTC
NM_000527.5:c.2248_2249delinsTC MANE Select NP_000518.1:p.Ser750=
NM_001195798.2:c.2248_2249delinsTC NP_001182727.1:p.Ser750=
NM_001195799.2:c.2125_2126delinsTC NP_001182728.1:p.Ser709=
NM_001195800.2:c.1744_1745delinsTC NP_001182729.1:p.Ser582=
NM_001195803.2:c.1714_1715delinsTC NP_001182732.1:p.Ser572=