Canonical Allele Identifier: CA2322777179
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123206_11123207delinsTC , CM000681.2:g.11123206_11123207delinsTC GRCh38
NC_000019.9:g.11233882_11233883delinsTC , CM000681.1:g.11233882_11233883delinsTC GRCh37
NC_000019.8:g.11094882_11094883delinsTC NCBI36
NG_009060.1:g.38826_38827delinsTC , LRG_274:g.38826_38827delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2431_2432delinsTC ENSP00000252444.6:p.Ser811=
ENST00000559340.2:c.*242_*243delinsTC ENSP00000453696.2:n.*242_*243delinsTC
ENST00000560467.2:c.2053_2054delinsTC ENSP00000453513.2:p.Ser685=
ENST00000558518.6:c.2173_2174delinsTC MANE Select ENSP00000454071.1:p.Ser725=
ENST00000252444.9:c.2427_2428delinsTC
ENST00000455727.6:c.1669_1670delinsTC ENSP00000397829.2:p.Ser557=
ENST00000535915.5:c.2050_2051delinsTC ENSP00000440520.1:p.Ser684=
ENST00000545707.5:c.1639_1640delinsTC ENSP00000437639.1:p.Ser547=
ENST00000557933.5:c.2173_2174delinsTC ENSP00000453557.1:p.Ser725=
ENST00000558013.5:c.2173_2174delinsTC ENSP00000453346.1:p.Ser725=
ENST00000558518.5:c.2173_2174delinsTC ENSP00000454071.1:p.Ser725=
NM_000527.4:c.2173_2174delinsTC , LRG_274t1:c.2173_2174delinsTC NP_000518.1:p.Ser725=
NM_001195798.1:c.2173_2174delinsTC NP_001182727.1:p.Ser725=
NM_001195799.1:c.2050_2051delinsTC NP_001182728.1:p.Ser684=
NM_001195800.1:c.1669_1670delinsTC NP_001182729.1:p.Ser557=
NM_001195803.1:c.1639_1640delinsTC NP_001182732.1:p.Ser547=
XM_011528010.1:c.2173_2174delinsTC XP_011526312.1:p.Ser725=
XM_011528011.1:c.1792_1793delinsTC XP_011526313.1:p.Ser598=
XR_244074.2:n.2183_2184delinsTC
XM_011528010.2:c.2173_2174delinsTC XP_011526312.1:p.Ser725=
XR_001753685.2:n.2507_2508delinsTC
XR_001753686.2:n.2150_2151delinsTC
NM_000527.5:c.2173_2174delinsTC MANE Select NP_000518.1:p.Ser725=
NM_001195798.2:c.2173_2174delinsTC NP_001182727.1:p.Ser725=
NM_001195799.2:c.2050_2051delinsTC NP_001182728.1:p.Ser684=
NM_001195800.2:c.1669_1670delinsTC NP_001182729.1:p.Ser557=
NM_001195803.2:c.1639_1640delinsTC NP_001182732.1:p.Ser547=