Canonical Allele Identifier: CA2322768592
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107432_11107433delinsCG , CM000681.2:g.11107432_11107433delinsCG GRCh38
NC_000019.9:g.11218108_11218109delinsCG , CM000681.1:g.11218108_11218109delinsCG GRCh37
NC_000019.8:g.11079108_11079109delinsCG NCBI36
NG_009060.1:g.23052_23053delinsCG , LRG_274:g.23052_23053delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1116_1117delinsCG ENSP00000252444.6:p.Ser372=
ENST00000559340.2:c.858_859delinsCG ENSP00000453696.2:p.Ser286=
ENST00000560467.2:c.858_859delinsCG ENSP00000453513.2:p.Ser286=
ENST00000558518.6:c.858_859delinsCG MANE Select ENSP00000454071.1:p.Ser286=
ENST00000252444.9:c.1112_1113delinsCG
ENST00000455727.6:c.354_355delinsCG ENSP00000397829.2:p.Ser118=
ENST00000535915.5:c.735_736delinsCG ENSP00000440520.1:p.Ser245=
ENST00000545707.5:c.477_478delinsCG ENSP00000437639.1:p.Ser159=
ENST00000557933.5:c.858_859delinsCG ENSP00000453557.1:p.Ser286=
ENST00000558013.5:c.858_859delinsCG ENSP00000453346.1:p.Ser286=
ENST00000558518.5:c.858_859delinsCG ENSP00000454071.1:p.Ser286=
ENST00000558528.1:n.373_374delinsCG
ENST00000560467.1:c.458_459delinsCG
NM_000527.4:c.858_859delinsCG , LRG_274t1:c.858_859delinsCG NP_000518.1:p.Ser286=
NM_001195798.1:c.858_859delinsCG NP_001182727.1:p.Ser286=
NM_001195799.1:c.735_736delinsCG NP_001182728.1:p.Ser245=
NM_001195800.1:c.354_355delinsCG NP_001182729.1:p.Ser118=
NM_001195803.1:c.477_478delinsCG NP_001182732.1:p.Ser159=
XM_011528010.1:c.858_859delinsCG XP_011526312.1:p.Ser286=
XM_011528011.1:c.477_478delinsCG XP_011526313.1:p.Ser159=
XR_244074.2:n.1008_1009delinsCG
XM_011528010.2:c.858_859delinsCG XP_011526312.1:p.Ser286=
XR_001753685.2:n.975_976delinsCG
XR_001753686.2:n.975_976delinsCG
NM_000527.5:c.858_859delinsCG MANE Select NP_000518.1:p.Ser286=
NM_001195798.2:c.858_859delinsCG NP_001182727.1:p.Ser286=
NM_001195799.2:c.735_736delinsCG NP_001182728.1:p.Ser245=
NM_001195800.2:c.354_355delinsCG NP_001182729.1:p.Ser118=
NM_001195803.2:c.477_478delinsCG NP_001182732.1:p.Ser159=