Canonical Allele Identifier: CA2322780261
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129534_11129535delinsTG , CM000681.2:g.11129534_11129535delinsTG GRCh38
NC_000019.9:g.11240210_11240211delinsTG , CM000681.1:g.11240210_11240211delinsTG GRCh37
NC_000019.8:g.11101210_11101211delinsTG NCBI36
NG_009060.1:g.45154_45155delinsTG , LRG_274:g.45154_45155delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2669_2670delinsTG ENSP00000252444.6:p.Leu890=
ENST00000559340.2:c.*480_*481delinsTG ENSP00000453696.2:n.*480_*481delinsTG
ENST00000560467.2:c.2291_2292delinsTG ENSP00000453513.2:p.Leu764=
ENST00000558518.6:c.2411_2412delinsTG MANE Select ENSP00000454071.1:p.Leu804=
ENST00000252444.9:c.2665_2666delinsTG
ENST00000455727.6:c.1907_1908delinsTG ENSP00000397829.2:p.Leu636=
ENST00000535915.5:c.2288_2289delinsTG ENSP00000440520.1:p.Leu763=
ENST00000545707.5:c.1877_1878delinsTG ENSP00000437639.1:p.Leu626=
ENST00000557933.5:c.2473_2474delinsTG ENSP00000453557.1:p.Trp825=
ENST00000558013.5:c.2411_2412delinsTG ENSP00000453346.1:p.Leu804=
ENST00000558518.5:c.2411_2412delinsTG ENSP00000454071.1:p.Leu804=
ENST00000560628.1:n.108+1880_108+1881delinsTG
NM_000527.4:c.2411_2412delinsTG , LRG_274t1:c.2411_2412delinsTG NP_000518.1:p.Leu804=
NM_001195798.1:c.2411_2412delinsTG NP_001182727.1:p.Leu804=
NM_001195799.1:c.2288_2289delinsTG NP_001182728.1:p.Leu763=
NM_001195800.1:c.1907_1908delinsTG NP_001182729.1:p.Leu636=
NM_001195803.1:c.1877_1878delinsTG NP_001182732.1:p.Leu626=
XM_011528010.1:c.2333_2334delinsTG XP_011526312.1:p.Leu778=
XM_011528011.1:c.2030_2031delinsTG XP_011526313.1:p.Leu677=
XR_244074.2:n.2421_2422delinsTG
XM_011528010.2:c.2333_2334delinsTG XP_011526312.1:p.Leu778=
XR_001753685.2:n.2745_2746delinsTG
XR_001753686.2:n.2388_2389delinsTG
NM_000527.5:c.2411_2412delinsTG MANE Select NP_000518.1:p.Leu804=
NM_001195798.2:c.2411_2412delinsTG NP_001182727.1:p.Leu804=
NM_001195799.2:c.2288_2289delinsTG NP_001182728.1:p.Leu763=
NM_001195800.2:c.1907_1908delinsTG NP_001182729.1:p.Leu636=
NM_001195803.2:c.1877_1878delinsTG NP_001182732.1:p.Leu626=