Canonical Allele Identifier: CA2573050573
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105390_11105396del , CM000681.2:g.11105390_11105396del GRCh38
NC_000019.9:g.11216066_11216072del , CM000681.1:g.11216066_11216072del GRCh37
NC_000019.8:g.11077066_11077072del NCBI36
NG_009060.1:g.21010_21016del , LRG_274:g.21010_21016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.742_748del ENSP00000252444.6:p.Pro248CysfsTer?
ENST00000559340.2:c.484_490del ENSP00000453696.2:p.Pro162CysfsTer?
ENST00000560467.2:c.484_490del ENSP00000453513.2:p.Pro162CysfsTer?
ENST00000558518.6:c.484_490del MANE Select ENSP00000454071.1:p.Pro162CysfsTer?
ENST00000252444.9:c.738_744del
ENST00000455727.6:c.314-2002_314-1996del ENSP00000397829.2:n.314-2002_314-1996del
ENST00000535915.5:c.361_367del ENSP00000440520.1:p.Pro121CysfsTer?
ENST00000545707.5:c.314-1175_314-1169del ENSP00000437639.1:n.314-1175_314-1169del
ENST00000557933.5:c.484_490del ENSP00000453557.1:p.Pro162CysfsTer?
ENST00000558013.5:c.484_490del ENSP00000453346.1:p.Pro162CysfsTer?
ENST00000558518.5:c.484_490del ENSP00000454071.1:p.Pro162CysfsTer?
ENST00000560467.1:c.84_90del
NM_000527.4:c.484_490del , LRG_274t1:c.484_490del NP_000518.1:p.Pro162CysfsTer?
NM_001195798.1:c.484_490del NP_001182727.1:p.Pro162CysfsTer?
NM_001195799.1:c.361_367del NP_001182728.1:p.Pro121CysfsTer?
NM_001195800.1:c.314-2002_314-1996del NP_001182729.1:n.314-2002_314-1996del
NM_001195803.1:c.314-1175_314-1169del NP_001182732.1:n.314-1175_314-1169del
XM_011528010.1:c.484_490del XP_011526312.1:p.Pro162CysfsTer?
XM_011528011.1:c.314-1175_314-1169del XP_011526313.1:n.314-1175_314-1169del
XR_244074.2:n.634_640del
XM_011528010.2:c.484_490del XP_011526312.1:p.Pro162CysfsTer?
XR_001753685.2:n.601_607del
XR_001753686.2:n.601_607del
NM_000527.5:c.484_490del MANE Select NP_000518.1:p.Pro162CysfsTer?
NM_001195798.2:c.484_490del NP_001182727.1:p.Pro162CysfsTer?
NM_001195799.2:c.361_367del NP_001182728.1:p.Pro121CysfsTer?
NM_001195800.2:c.314-2002_314-1996del NP_001182729.1:n.314-2002_314-1996del
NM_001195803.2:c.314-1175_314-1169del NP_001182732.1:n.314-1175_314-1169del