Canonical Allele Identifier: CA2573050578
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105556_11105558del , CM000681.2:g.11105556_11105558del GRCh38
NC_000019.9:g.11216232_11216234del , CM000681.1:g.11216232_11216234del GRCh37
NC_000019.8:g.11077232_11077234del NCBI36
NG_009060.1:g.21176_21178del , LRG_274:g.21176_21178del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.908_910del ENSP00000252444.6:p.Asp303del
ENST00000559340.2:c.650_652del ENSP00000453696.2:p.Asp217del
ENST00000560467.2:c.650_652del ENSP00000453513.2:p.Asp217del
ENST00000558518.6:c.650_652del MANE Select ENSP00000454071.1:p.Asp217del
ENST00000252444.9:c.904_906del
ENST00000455727.6:c.314-1836_314-1834del ENSP00000397829.2:n.314-1836_314-1834del
ENST00000535915.5:c.527_529del ENSP00000440520.1:p.Asp176del
ENST00000545707.5:c.314-1009_314-1007del ENSP00000437639.1:n.314-1009_314-1007del
ENST00000557933.5:c.650_652del ENSP00000453557.1:p.Asp217del
ENST00000558013.5:c.650_652del ENSP00000453346.1:p.Asp217del
ENST00000558518.5:c.650_652del ENSP00000454071.1:p.Asp217del
ENST00000560467.1:c.250_252del
NM_000527.4:c.650_652del , LRG_274t1:c.650_652del NP_000518.1:p.Asp217del
NM_001195798.1:c.650_652del NP_001182727.1:p.Asp217del
NM_001195799.1:c.527_529del NP_001182728.1:p.Asp176del
NM_001195800.1:c.314-1836_314-1834del NP_001182729.1:n.314-1836_314-1834del
NM_001195803.1:c.314-1009_314-1007del NP_001182732.1:n.314-1009_314-1007del
XM_011528010.1:c.650_652del XP_011526312.1:p.Asp217del
XM_011528011.1:c.314-1009_314-1007del XP_011526313.1:n.314-1009_314-1007del
XR_244074.2:n.800_802del
XM_011528010.2:c.650_652del XP_011526312.1:p.Asp217del
XR_001753685.2:n.767_769del
XR_001753686.2:n.767_769del
NM_000527.5:c.650_652del MANE Select NP_000518.1:p.Asp217del
NM_001195798.2:c.650_652del NP_001182727.1:p.Asp217del
NM_001195799.2:c.527_529del NP_001182728.1:p.Asp176del
NM_001195800.2:c.314-1836_314-1834del NP_001182729.1:n.314-1836_314-1834del
NM_001195803.2:c.314-1009_314-1007del NP_001182732.1:n.314-1009_314-1007del