Canonical Allele Identifier: CA2322771970
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113651_11113653delinsACT , CM000681.2:g.11113651_11113653delinsACT GRCh38
NC_000019.9:g.11224327_11224329delinsACT , CM000681.1:g.11224327_11224329delinsACT GRCh37
NC_000019.8:g.11085327_11085329delinsACT NCBI36
NG_009060.1:g.29271_29273delinsACT , LRG_274:g.29271_29273delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1733_1735delinsACT ENSP00000252444.6:p.Asp578=
ENST00000559340.2:c.1475_1477delinsACT ENSP00000453696.2:p.Asp492=
ENST00000560467.2:c.1355_1357delinsACT ENSP00000453513.2:p.Asp452=
ENST00000558518.6:c.1475_1477delinsACT MANE Select ENSP00000454071.1:p.Asp492=
ENST00000252444.9:c.1729_1731delinsACT
ENST00000455727.6:c.971_973delinsACT ENSP00000397829.2:p.Asp324=
ENST00000535915.5:c.1352_1354delinsACT ENSP00000440520.1:p.Asp451=
ENST00000545707.5:c.1094_1096delinsACT ENSP00000437639.1:p.Asp365=
ENST00000557933.5:c.1475_1477delinsACT ENSP00000453557.1:p.Asp492=
ENST00000558013.5:c.1475_1477delinsACT ENSP00000453346.1:p.Asp492=
ENST00000558518.5:c.1475_1477delinsACT ENSP00000454071.1:p.Asp492=
ENST00000559340.1:c.196_198delinsACT
NM_000527.4:c.1475_1477delinsACT , LRG_274t1:c.1475_1477delinsACT NP_000518.1:p.Asp492=
NM_001195798.1:c.1475_1477delinsACT NP_001182727.1:p.Asp492=
NM_001195799.1:c.1352_1354delinsACT NP_001182728.1:p.Asp451=
NM_001195800.1:c.971_973delinsACT NP_001182729.1:p.Asp324=
NM_001195803.1:c.1094_1096delinsACT NP_001182732.1:p.Asp365=
XM_011528010.1:c.1475_1477delinsACT XP_011526312.1:p.Asp492=
XM_011528011.1:c.1094_1096delinsACT XP_011526313.1:p.Asp365=
XR_244074.2:n.1625_1627delinsACT
XM_011528010.2:c.1475_1477delinsACT XP_011526312.1:p.Asp492=
XR_001753685.2:n.1592_1594delinsACT
XR_001753686.2:n.1592_1594delinsACT
NM_000527.5:c.1475_1477delinsACT MANE Select NP_000518.1:p.Asp492=
NM_001195798.2:c.1475_1477delinsACT NP_001182727.1:p.Asp492=
NM_001195799.2:c.1352_1354delinsACT NP_001182728.1:p.Asp451=
NM_001195800.2:c.971_973delinsACT NP_001182729.1:p.Asp324=
NM_001195803.2:c.1094_1096delinsACT NP_001182732.1:p.Asp365=