Canonical Allele Identifier: CA2322775533
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120379_11120381delinsGGT , CM000681.2:g.11120379_11120381delinsGGT GRCh38
NC_000019.9:g.11231055_11231057delinsGGT , CM000681.1:g.11231055_11231057delinsGGT GRCh37
NC_000019.8:g.11092055_11092057delinsGGT NCBI36
NG_009060.1:g.35999_36001delinsGGT , LRG_274:g.35999_36001delinsGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2255_2257delinsGGT ENSP00000252444.6:p.Trp752=
ENST00000559340.2:c.*66_*68delinsGGT ENSP00000453696.2:n.*66_*68delinsGGT
ENST00000560467.2:c.1877_1879delinsGGT ENSP00000453513.2:p.Trp626=
ENST00000558518.6:c.1997_1999delinsGGT MANE Select ENSP00000454071.1:p.Trp666=
ENST00000252444.9:c.2251_2253delinsGGT
ENST00000455727.6:c.1493_1495delinsGGT ENSP00000397829.2:p.Trp498=
ENST00000535915.5:c.1874_1876delinsGGT ENSP00000440520.1:p.Trp625=
ENST00000545707.5:c.1606+146_1606+148delinsGGT ENSP00000437639.1:n.1606+146_1606+148delinsGGT
ENST00000557933.5:c.1997_1999delinsGGT ENSP00000453557.1:p.Trp666=
ENST00000558013.5:c.1997_1999delinsGGT ENSP00000453346.1:p.Trp666=
ENST00000558518.5:c.1997_1999delinsGGT ENSP00000454071.1:p.Trp666=
ENST00000559340.1:c.578_580delinsGGT
NM_000527.4:c.1997_1999delinsGGT , LRG_274t1:c.1997_1999delinsGGT NP_000518.1:p.Trp666=
NM_001195798.1:c.1997_1999delinsGGT NP_001182727.1:p.Trp666=
NM_001195799.1:c.1874_1876delinsGGT NP_001182728.1:p.Trp625=
NM_001195800.1:c.1493_1495delinsGGT NP_001182729.1:p.Trp498=
NM_001195803.1:c.1606+146_1606+148delinsGGT NP_001182732.1:n.1606+146_1606+148delinsGGT
XM_011528010.1:c.1997_1999delinsGGT XP_011526312.1:p.Trp666=
XM_011528011.1:c.1616_1618delinsGGT XP_011526313.1:p.Trp539=
XR_244074.2:n.2007_2009delinsGGT
XM_011528010.2:c.1997_1999delinsGGT XP_011526312.1:p.Trp666=
XR_001753685.2:n.2114_2116delinsGGT
XR_001753686.2:n.1974_1976delinsGGT
NM_000527.5:c.1997_1999delinsGGT MANE Select NP_000518.1:p.Trp666=
NM_001195798.2:c.1997_1999delinsGGT NP_001182727.1:p.Trp666=
NM_001195799.2:c.1874_1876delinsGGT NP_001182728.1:p.Trp625=
NM_001195800.2:c.1493_1495delinsGGT NP_001182729.1:p.Trp498=
NM_001195803.2:c.1606+146_1606+148delinsGGT NP_001182732.1:n.1606+146_1606+148delinsGGT