Canonical Allele Identifier: CA2322764758
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100322_11100325delinsCTGA , CM000681.2:g.11100322_11100325delinsCTGA GRCh38
NC_000019.9:g.11210998_11211001delinsCTGA , CM000681.1:g.11210998_11211001delinsCTGA GRCh37
NC_000019.8:g.11071998_11072001delinsCTGA NCBI36
NG_009060.1:g.15942_15945delinsCTGA , LRG_274:g.15942_15945delinsCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.425_428delinsCTGA ENSP00000252444.6:p.Ser142=
ENST00000559340.2:c.167_170delinsCTGA ENSP00000453696.2:p.Ser56=
ENST00000560467.2:c.167_170delinsCTGA ENSP00000453513.2:p.Ser56=
ENST00000558518.6:c.167_170delinsCTGA MANE Select ENSP00000454071.1:p.Ser56=
ENST00000252444.9:c.421_424delinsCTGA
ENST00000455727.6:c.167_170delinsCTGA ENSP00000397829.2:p.Ser56=
ENST00000535915.5:c.167_170delinsCTGA ENSP00000440520.1:p.Ser56=
ENST00000545707.5:c.167_170delinsCTGA ENSP00000437639.1:p.Ser56=
ENST00000557933.5:c.167_170delinsCTGA ENSP00000453557.1:p.Ser56=
ENST00000557958.1:n.253_256delinsCTGA
ENST00000558013.5:c.167_170delinsCTGA ENSP00000453346.1:p.Ser56=
ENST00000558518.5:c.167_170delinsCTGA ENSP00000454071.1:p.Ser56=
ENST00000560502.5:n.253_256delinsCTGA
NM_000527.4:c.167_170delinsCTGA , LRG_274t1:c.167_170delinsCTGA NP_000518.1:p.Ser56=
NM_001195798.1:c.167_170delinsCTGA NP_001182727.1:p.Ser56=
NM_001195799.1:c.167_170delinsCTGA NP_001182728.1:p.Ser56=
NM_001195800.1:c.167_170delinsCTGA NP_001182729.1:p.Ser56=
NM_001195803.1:c.167_170delinsCTGA NP_001182732.1:p.Ser56=
XM_011528010.1:c.167_170delinsCTGA XP_011526312.1:p.Ser56=
XM_011528011.1:c.167_170delinsCTGA XP_011526313.1:p.Ser56=
XR_244074.2:n.317_320delinsCTGA
XM_011528010.2:c.167_170delinsCTGA XP_011526312.1:p.Ser56=
XR_001753685.2:n.284_287delinsCTGA
XR_001753686.2:n.284_287delinsCTGA
NM_000527.5:c.167_170delinsCTGA MANE Select NP_000518.1:p.Ser56=
NM_001195798.2:c.167_170delinsCTGA NP_001182727.1:p.Ser56=
NM_001195799.2:c.167_170delinsCTGA NP_001182728.1:p.Ser56=
NM_001195800.2:c.167_170delinsCTGA NP_001182729.1:p.Ser56=
NM_001195803.2:c.167_170delinsCTGA NP_001182732.1:p.Ser56=