Canonical Allele Identifier: CA2322775449
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120231_11120233delinsGAG , CM000681.2:g.11120231_11120233delinsGAG GRCh38
NC_000019.9:g.11230907_11230909delinsGAG , CM000681.1:g.11230907_11230909delinsGAG GRCh37
NC_000019.8:g.11091907_11091909delinsGAG NCBI36
NG_009060.1:g.35851_35853delinsGAG , LRG_274:g.35851_35853delinsGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2243_2245delinsGAG ENSP00000252444.6:p.Arg748=
ENST00000559340.2:c.*54_*56delinsGAG ENSP00000453696.2:n.*54_*56delinsGAG
ENST00000560467.2:c.1865_1867delinsGAG ENSP00000453513.2:p.Arg622=
ENST00000558518.6:c.1985_1987delinsGAG MANE Select ENSP00000454071.1:p.Arg662=
ENST00000252444.9:c.2239_2241delinsGAG
ENST00000455727.6:c.1481_1483delinsGAG ENSP00000397829.2:p.Arg494=
ENST00000535915.5:c.1862_1864delinsGAG ENSP00000440520.1:p.Arg621=
ENST00000545707.5:c.1604_1606delinsGAG ENSP00000437639.1:p.Arg535=
ENST00000557933.5:c.1985_1987delinsGAG ENSP00000453557.1:p.Arg662=
ENST00000558013.5:c.1985_1987delinsGAG ENSP00000453346.1:p.Arg662=
ENST00000558518.5:c.1985_1987delinsGAG ENSP00000454071.1:p.Arg662=
ENST00000559340.1:c.566_568delinsGAG
NM_000527.4:c.1985_1987delinsGAG , LRG_274t1:c.1985_1987delinsGAG NP_000518.1:p.Arg662=
NM_001195798.1:c.1985_1987delinsGAG NP_001182727.1:p.Arg662=
NM_001195799.1:c.1862_1864delinsGAG NP_001182728.1:p.Arg621=
NM_001195800.1:c.1481_1483delinsGAG NP_001182729.1:p.Arg494=
NM_001195803.1:c.1604_1606delinsGAG NP_001182732.1:p.Arg535=
XM_011528010.1:c.1985_1987delinsGAG XP_011526312.1:p.Arg662=
XM_011528011.1:c.1604_1606delinsGAG XP_011526313.1:p.Arg535=
XR_244074.2:n.1995_1997delinsGAG
XM_011528010.2:c.1985_1987delinsGAG XP_011526312.1:p.Arg662=
XR_001753685.2:n.2102_2104delinsGAG
XR_001753686.2:n.1962_1964delinsGAG
NM_000527.5:c.1985_1987delinsGAG MANE Select NP_000518.1:p.Arg662=
NM_001195798.2:c.1985_1987delinsGAG NP_001182727.1:p.Arg662=
NM_001195799.2:c.1862_1864delinsGAG NP_001182728.1:p.Arg621=
NM_001195800.2:c.1481_1483delinsGAG NP_001182729.1:p.Arg494=
NM_001195803.2:c.1604_1606delinsGAG NP_001182732.1:p.Arg535=