Canonical Allele Identifier: CA2322779526
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128030_11128031delinsAG , CM000681.2:g.11128030_11128031delinsAG GRCh38
NC_000019.9:g.11238706_11238707delinsAG , CM000681.1:g.11238706_11238707delinsAG GRCh37
NC_000019.8:g.11099706_11099707delinsAG NCBI36
NG_009060.1:g.43650_43651delinsAG , LRG_274:g.43650_43651delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2592_2593delinsAG ENSP00000252444.6:p.Arg864=
ENST00000559340.2:c.*403_*404delinsAG ENSP00000453696.2:n.*403_*404delinsAG
ENST00000560467.2:c.2214_2215delinsAG ENSP00000453513.2:p.Arg738=
ENST00000558518.6:c.2334_2335delinsAG MANE Select ENSP00000454071.1:p.Arg778=
ENST00000252444.9:c.2588_2589delinsAG
ENST00000455727.6:c.1830_1831delinsAG ENSP00000397829.2:p.Arg610=
ENST00000535915.5:c.2211_2212delinsAG ENSP00000440520.1:p.Arg737=
ENST00000545707.5:c.1800_1801delinsAG ENSP00000437639.1:p.Arg600=
ENST00000557933.5:c.2334_2335delinsAG ENSP00000453557.1:p.Arg778=
ENST00000558013.5:c.2334_2335delinsAG ENSP00000453346.1:p.Arg778=
ENST00000558518.5:c.2334_2335delinsAG ENSP00000454071.1:p.Arg778=
ENST00000560628.1:n.108+376_108+377delinsAG
NM_000527.4:c.2334_2335delinsAG , LRG_274t1:c.2334_2335delinsAG NP_000518.1:p.Arg778=
NM_001195798.1:c.2334_2335delinsAG NP_001182727.1:p.Arg778=
NM_001195799.1:c.2211_2212delinsAG NP_001182728.1:p.Arg737=
NM_001195800.1:c.1830_1831delinsAG NP_001182729.1:p.Arg610=
NM_001195803.1:c.1800_1801delinsAG NP_001182732.1:p.Arg600=
XM_011528010.1:c.2312-1483_2312-1482delinsAG XP_011526312.1:n.2312-1483_2312-1482delinsAG
XM_011528011.1:c.1953_1954delinsAG XP_011526313.1:p.Arg651=
XR_244074.2:n.2344_2345delinsAG
XM_011528010.2:c.2312-1483_2312-1482delinsAG XP_011526312.1:n.2312-1483_2312-1482delinsAG
XR_001753685.2:n.2668_2669delinsAG
XR_001753686.2:n.2311_2312delinsAG
NM_000527.5:c.2334_2335delinsAG MANE Select NP_000518.1:p.Arg778=
NM_001195798.2:c.2334_2335delinsAG NP_001182727.1:p.Arg778=
NM_001195799.2:c.2211_2212delinsAG NP_001182728.1:p.Arg737=
NM_001195800.2:c.1830_1831delinsAG NP_001182729.1:p.Arg610=
NM_001195803.2:c.1800_1801delinsAG NP_001182732.1:p.Arg600=