Canonical Allele Identifier: CA2322775549
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120393_11120395delinsACC , CM000681.2:g.11120393_11120395delinsACC GRCh38
NC_000019.9:g.11231069_11231071delinsACC , CM000681.1:g.11231069_11231071delinsACC GRCh37
NC_000019.8:g.11092069_11092071delinsACC NCBI36
NG_009060.1:g.36013_36015delinsACC , LRG_274:g.36013_36015delinsACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2269_2271delinsACC ENSP00000252444.6:p.Thr757=
ENST00000559340.2:c.*80_*82delinsACC ENSP00000453696.2:n.*80_*82delinsACC
ENST00000560467.2:c.1891_1893delinsACC ENSP00000453513.2:p.Thr631=
ENST00000558518.6:c.2011_2013delinsACC MANE Select ENSP00000454071.1:p.Thr671=
ENST00000252444.9:c.2265_2267delinsACC
ENST00000455727.6:c.1507_1509delinsACC ENSP00000397829.2:p.Thr503=
ENST00000535915.5:c.1888_1890delinsACC ENSP00000440520.1:p.Thr630=
ENST00000545707.5:c.1606+160_1606+162delinsACC ENSP00000437639.1:n.1606+160_1606+162delinsACC
ENST00000557933.5:c.2011_2013delinsACC ENSP00000453557.1:p.Thr671=
ENST00000558013.5:c.2011_2013delinsACC ENSP00000453346.1:p.Thr671=
ENST00000558518.5:c.2011_2013delinsACC ENSP00000454071.1:p.Thr671=
ENST00000559340.1:c.592_594delinsACC
NM_000527.4:c.2011_2013delinsACC , LRG_274t1:c.2011_2013delinsACC NP_000518.1:p.Thr671=
NM_001195798.1:c.2011_2013delinsACC NP_001182727.1:p.Thr671=
NM_001195799.1:c.1888_1890delinsACC NP_001182728.1:p.Thr630=
NM_001195800.1:c.1507_1509delinsACC NP_001182729.1:p.Thr503=
NM_001195803.1:c.1606+160_1606+162delinsACC NP_001182732.1:n.1606+160_1606+162delinsACC
XM_011528010.1:c.2011_2013delinsACC XP_011526312.1:p.Thr671=
XM_011528011.1:c.1630_1632delinsACC XP_011526313.1:p.Thr544=
XR_244074.2:n.2021_2023delinsACC
XM_011528010.2:c.2011_2013delinsACC XP_011526312.1:p.Thr671=
XR_001753685.2:n.2128_2130delinsACC
XR_001753686.2:n.1988_1990delinsACC
NM_000527.5:c.2011_2013delinsACC MANE Select NP_000518.1:p.Thr671=
NM_001195798.2:c.2011_2013delinsACC NP_001182727.1:p.Thr671=
NM_001195799.2:c.1888_1890delinsACC NP_001182728.1:p.Thr630=
NM_001195800.2:c.1507_1509delinsACC NP_001182729.1:p.Thr503=
NM_001195803.2:c.1606+160_1606+162delinsACC NP_001182732.1:n.1606+160_1606+162delinsACC