Canonical Allele Identifier: CA2322767400
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105364_11105365delinsTC , CM000681.2:g.11105364_11105365delinsTC GRCh38
NC_000019.9:g.11216040_11216041delinsTC , CM000681.1:g.11216040_11216041delinsTC GRCh37
NC_000019.8:g.11077040_11077041delinsTC NCBI36
NG_009060.1:g.20984_20985delinsTC , LRG_274:g.20984_20985delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.716_717delinsTC ENSP00000252444.6:p.Phe239=
ENST00000559340.2:c.458_459delinsTC ENSP00000453696.2:p.Phe153=
ENST00000560467.2:c.458_459delinsTC ENSP00000453513.2:p.Phe153=
ENST00000558518.6:c.458_459delinsTC MANE Select ENSP00000454071.1:p.Phe153=
ENST00000252444.9:c.712_713delinsTC
ENST00000455727.6:c.314-2028_314-2027delinsTC ENSP00000397829.2:n.314-2028_314-2027delinsTC
ENST00000535915.5:c.335_336delinsTC ENSP00000440520.1:p.Phe112=
ENST00000545707.5:c.314-1201_314-1200delinsTC ENSP00000437639.1:n.314-1201_314-1200delinsTC
ENST00000557933.5:c.458_459delinsTC ENSP00000453557.1:p.Phe153=
ENST00000558013.5:c.458_459delinsTC ENSP00000453346.1:p.Phe153=
ENST00000558518.5:c.458_459delinsTC ENSP00000454071.1:p.Phe153=
ENST00000560467.1:c.58_59delinsTC
NM_000527.4:c.458_459delinsTC , LRG_274t1:c.458_459delinsTC NP_000518.1:p.Phe153=
NM_001195798.1:c.458_459delinsTC NP_001182727.1:p.Phe153=
NM_001195799.1:c.335_336delinsTC NP_001182728.1:p.Phe112=
NM_001195800.1:c.314-2028_314-2027delinsTC NP_001182729.1:n.314-2028_314-2027delinsTC
NM_001195803.1:c.314-1201_314-1200delinsTC NP_001182732.1:n.314-1201_314-1200delinsTC
XM_011528010.1:c.458_459delinsTC XP_011526312.1:p.Phe153=
XM_011528011.1:c.314-1201_314-1200delinsTC XP_011526313.1:n.314-1201_314-1200delinsTC
XR_244074.2:n.608_609delinsTC
XM_011528010.2:c.458_459delinsTC XP_011526312.1:p.Phe153=
XR_001753685.2:n.575_576delinsTC
XR_001753686.2:n.575_576delinsTC
NM_000527.5:c.458_459delinsTC MANE Select NP_000518.1:p.Phe153=
NM_001195798.2:c.458_459delinsTC NP_001182727.1:p.Phe153=
NM_001195799.2:c.335_336delinsTC NP_001182728.1:p.Phe112=
NM_001195800.2:c.314-2028_314-2027delinsTC NP_001182729.1:n.314-2028_314-2027delinsTC
NM_001195803.2:c.314-1201_314-1200delinsTC NP_001182732.1:n.314-1201_314-1200delinsTC