Canonical Allele Identifier: CA2322780250
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129521_11129526delinsGTCTTC , CM000681.2:g.11129521_11129526delinsGTCTTC GRCh38
NC_000019.9:g.11240197_11240202delinsGTCTTC , CM000681.1:g.11240197_11240202delinsGTCTTC GRCh37
NC_000019.8:g.11101197_11101202delinsGTCTTC NCBI36
NG_009060.1:g.45141_45146delinsGTCTTC , LRG_274:g.45141_45146delinsGTCTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2656_2661delinsGTCTTC ENSP00000252444.6:p.Val886=
ENST00000559340.2:c.*467_*472delinsGTCTTC ENSP00000453696.2:n.*467_*472delinsGTCTTC
ENST00000560467.2:c.2278_2283delinsGTCTTC ENSP00000453513.2:p.Val760=
ENST00000558518.6:c.2398_2403delinsGTCTTC MANE Select ENSP00000454071.1:p.Val800=
ENST00000252444.9:c.2652_2657delinsGTCTTC
ENST00000455727.6:c.1894_1899delinsGTCTTC ENSP00000397829.2:p.Val632=
ENST00000535915.5:c.2275_2280delinsGTCTTC ENSP00000440520.1:p.Val759=
ENST00000545707.5:c.1864_1869delinsGTCTTC ENSP00000437639.1:p.Val622=
ENST00000557933.5:c.2460_2465delinsGTCTTC ENSP00000453557.1:p.Ser820=
ENST00000558013.5:c.2398_2403delinsGTCTTC ENSP00000453346.1:p.Val800=
ENST00000558518.5:c.2398_2403delinsGTCTTC ENSP00000454071.1:p.Val800=
ENST00000560628.1:n.108+1867_108+1872delinsGTCTTC
NM_000527.4:c.2398_2403delinsGTCTTC , LRG_274t1:c.2398_2403delinsGTCTTC NP_000518.1:p.Val800=
NM_001195798.1:c.2398_2403delinsGTCTTC NP_001182727.1:p.Val800=
NM_001195799.1:c.2275_2280delinsGTCTTC NP_001182728.1:p.Val759=
NM_001195800.1:c.1894_1899delinsGTCTTC NP_001182729.1:p.Val632=
NM_001195803.1:c.1864_1869delinsGTCTTC NP_001182732.1:p.Val622=
XM_011528010.1:c.2320_2325delinsGTCTTC XP_011526312.1:p.Val774=
XM_011528011.1:c.2017_2022delinsGTCTTC XP_011526313.1:p.Val673=
XR_244074.2:n.2408_2413delinsGTCTTC
XM_011528010.2:c.2320_2325delinsGTCTTC XP_011526312.1:p.Val774=
XR_001753685.2:n.2732_2737delinsGTCTTC
XR_001753686.2:n.2375_2380delinsGTCTTC
NM_000527.5:c.2398_2403delinsGTCTTC MANE Select NP_000518.1:p.Val800=
NM_001195798.2:c.2398_2403delinsGTCTTC NP_001182727.1:p.Val800=
NM_001195799.2:c.2275_2280delinsGTCTTC NP_001182728.1:p.Val759=
NM_001195800.2:c.1894_1899delinsGTCTTC NP_001182729.1:p.Val632=
NM_001195803.2:c.1864_1869delinsGTCTTC NP_001182732.1:p.Val622=