Canonical Allele Identifier: CA2322773707
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116931_11116932delinsGC , CM000681.2:g.11116931_11116932delinsGC GRCh38
NC_000019.9:g.11227607_11227608delinsGC , CM000681.1:g.11227607_11227608delinsGC GRCh37
NC_000019.8:g.11088607_11088608delinsGC NCBI36
NG_009060.1:g.32551_32552delinsGC , LRG_274:g.32551_32552delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2036_2037delinsGC ENSP00000252444.6:p.Gly679=
ENST00000559340.2:c.1705+719_1705+720delinsGC ENSP00000453696.2:n.1705+719_1705+720delinsGC
ENST00000560467.2:c.1658_1659delinsGC ENSP00000453513.2:p.Gly553=
ENST00000558518.6:c.1778_1779delinsGC MANE Select ENSP00000454071.1:p.Gly593=
ENST00000252444.9:c.2032_2033delinsGC
ENST00000455727.6:c.1274_1275delinsGC ENSP00000397829.2:p.Gly425=
ENST00000535915.5:c.1655_1656delinsGC ENSP00000440520.1:p.Gly552=
ENST00000545707.5:c.1397_1398delinsGC ENSP00000437639.1:p.Gly466=
ENST00000557933.5:c.1778_1779delinsGC ENSP00000453557.1:p.Gly593=
ENST00000558013.5:c.1778_1779delinsGC ENSP00000453346.1:p.Gly593=
ENST00000558518.5:c.1778_1779delinsGC ENSP00000454071.1:p.Gly593=
ENST00000559340.1:c.426+719_426+720delinsGC
NM_000527.4:c.1778_1779delinsGC , LRG_274t1:c.1778_1779delinsGC NP_000518.1:p.Gly593=
NM_001195798.1:c.1778_1779delinsGC NP_001182727.1:p.Gly593=
NM_001195799.1:c.1655_1656delinsGC NP_001182728.1:p.Gly552=
NM_001195800.1:c.1274_1275delinsGC NP_001182729.1:p.Gly425=
NM_001195803.1:c.1397_1398delinsGC NP_001182732.1:p.Gly466=
XM_011528010.1:c.1778_1779delinsGC XP_011526312.1:p.Gly593=
XM_011528011.1:c.1397_1398delinsGC XP_011526313.1:p.Gly466=
XR_244074.2:n.1855+719_1855+720delinsGC
XM_011528010.2:c.1778_1779delinsGC XP_011526312.1:p.Gly593=
XR_001753685.2:n.1895_1896delinsGC
XR_001753686.2:n.1822+719_1822+720delinsGC
NM_000527.5:c.1778_1779delinsGC MANE Select NP_000518.1:p.Gly593=
NM_001195798.2:c.1778_1779delinsGC NP_001182727.1:p.Gly593=
NM_001195799.2:c.1655_1656delinsGC NP_001182728.1:p.Gly552=
NM_001195800.2:c.1274_1275delinsGC NP_001182729.1:p.Gly425=
NM_001195803.2:c.1397_1398delinsGC NP_001182732.1:p.Gly466=