Canonical Allele Identifier: CA2322775551
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120396_11120397delinsCT , CM000681.2:g.11120396_11120397delinsCT GRCh38
NC_000019.9:g.11231072_11231073delinsCT , CM000681.1:g.11231072_11231073delinsCT GRCh37
NC_000019.8:g.11092072_11092073delinsCT NCBI36
NG_009060.1:g.36016_36017delinsCT , LRG_274:g.36016_36017delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2272_2273delinsCT ENSP00000252444.6:p.Leu758=
ENST00000559340.2:c.*83_*84delinsCT ENSP00000453696.2:n.*83_*84delinsCT
ENST00000560467.2:c.1894_1895delinsCT ENSP00000453513.2:p.Leu632=
ENST00000558518.6:c.2014_2015delinsCT MANE Select ENSP00000454071.1:p.Leu672=
ENST00000252444.9:c.2268_2269delinsCT
ENST00000455727.6:c.1510_1511delinsCT ENSP00000397829.2:p.Leu504=
ENST00000535915.5:c.1891_1892delinsCT ENSP00000440520.1:p.Leu631=
ENST00000545707.5:c.1606+163_1606+164delinsCT ENSP00000437639.1:n.1606+163_1606+164delinsCT
ENST00000557933.5:c.2014_2015delinsCT ENSP00000453557.1:p.Leu672=
ENST00000558013.5:c.2014_2015delinsCT ENSP00000453346.1:p.Leu672=
ENST00000558518.5:c.2014_2015delinsCT ENSP00000454071.1:p.Leu672=
ENST00000559340.1:c.595_596delinsCT
NM_000527.4:c.2014_2015delinsCT , LRG_274t1:c.2014_2015delinsCT NP_000518.1:p.Leu672=
NM_001195798.1:c.2014_2015delinsCT NP_001182727.1:p.Leu672=
NM_001195799.1:c.1891_1892delinsCT NP_001182728.1:p.Leu631=
NM_001195800.1:c.1510_1511delinsCT NP_001182729.1:p.Leu504=
NM_001195803.1:c.1606+163_1606+164delinsCT NP_001182732.1:n.1606+163_1606+164delinsCT
XM_011528010.1:c.2014_2015delinsCT XP_011526312.1:p.Leu672=
XM_011528011.1:c.1633_1634delinsCT XP_011526313.1:p.Leu545=
XR_244074.2:n.2024_2025delinsCT
XM_011528010.2:c.2014_2015delinsCT XP_011526312.1:p.Leu672=
XR_001753685.2:n.2131_2132delinsCT
XR_001753686.2:n.1991_1992delinsCT
NM_000527.5:c.2014_2015delinsCT MANE Select NP_000518.1:p.Leu672=
NM_001195798.2:c.2014_2015delinsCT NP_001182727.1:p.Leu672=
NM_001195799.2:c.1891_1892delinsCT NP_001182728.1:p.Leu631=
NM_001195800.2:c.1510_1511delinsCT NP_001182729.1:p.Leu504=
NM_001195803.2:c.1606+163_1606+164delinsCT NP_001182732.1:n.1606+163_1606+164delinsCT