Canonical Allele Identifier: CA2322780253
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129522_11129526delinsTCTTC , CM000681.2:g.11129522_11129526delinsTCTTC GRCh38
NC_000019.9:g.11240198_11240202delinsTCTTC , CM000681.1:g.11240198_11240202delinsTCTTC GRCh37
NC_000019.8:g.11101198_11101202delinsTCTTC NCBI36
NG_009060.1:g.45142_45146delinsTCTTC , LRG_274:g.45142_45146delinsTCTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2657_2661delinsTCTTC ENSP00000252444.6:p.Val886=
ENST00000559340.2:c.*468_*472delinsTCTTC ENSP00000453696.2:n.*468_*472delinsTCTTC
ENST00000560467.2:c.2279_2283delinsTCTTC ENSP00000453513.2:p.Val760=
ENST00000558518.6:c.2399_2403delinsTCTTC MANE Select ENSP00000454071.1:p.Val800=
ENST00000252444.9:c.2653_2657delinsTCTTC
ENST00000455727.6:c.1895_1899delinsTCTTC ENSP00000397829.2:p.Val632=
ENST00000535915.5:c.2276_2280delinsTCTTC ENSP00000440520.1:p.Val759=
ENST00000545707.5:c.1865_1869delinsTCTTC ENSP00000437639.1:p.Val622=
ENST00000557933.5:c.2461_2465delinsTCTTC ENSP00000453557.1:p.Ser821=
ENST00000558013.5:c.2399_2403delinsTCTTC ENSP00000453346.1:p.Val800=
ENST00000558518.5:c.2399_2403delinsTCTTC ENSP00000454071.1:p.Val800=
ENST00000560628.1:n.108+1868_108+1872delinsTCTTC
NM_000527.4:c.2399_2403delinsTCTTC , LRG_274t1:c.2399_2403delinsTCTTC NP_000518.1:p.Val800=
NM_001195798.1:c.2399_2403delinsTCTTC NP_001182727.1:p.Val800=
NM_001195799.1:c.2276_2280delinsTCTTC NP_001182728.1:p.Val759=
NM_001195800.1:c.1895_1899delinsTCTTC NP_001182729.1:p.Val632=
NM_001195803.1:c.1865_1869delinsTCTTC NP_001182732.1:p.Val622=
XM_011528010.1:c.2321_2325delinsTCTTC XP_011526312.1:p.Val774=
XM_011528011.1:c.2018_2022delinsTCTTC XP_011526313.1:p.Val673=
XR_244074.2:n.2409_2413delinsTCTTC
XM_011528010.2:c.2321_2325delinsTCTTC XP_011526312.1:p.Val774=
XR_001753685.2:n.2733_2737delinsTCTTC
XR_001753686.2:n.2376_2380delinsTCTTC
NM_000527.5:c.2399_2403delinsTCTTC MANE Select NP_000518.1:p.Val800=
NM_001195798.2:c.2399_2403delinsTCTTC NP_001182727.1:p.Val800=
NM_001195799.2:c.2276_2280delinsTCTTC NP_001182728.1:p.Val759=
NM_001195800.2:c.1895_1899delinsTCTTC NP_001182729.1:p.Val632=
NM_001195803.2:c.1865_1869delinsTCTTC NP_001182732.1:p.Val622=