Canonical Allele Identifier: CA2695223207
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105560_11105561del , CM000681.2:g.11105560_11105561del GRCh38
NC_000019.9:g.11216236_11216237del , CM000681.1:g.11216236_11216237del GRCh37
NC_000019.8:g.11077236_11077237del NCBI36
NG_009060.1:g.21180_21181del , LRG_274:g.21180_21181del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.912_913del ENSP00000252444.6:p.Gly305ProfsTer8
ENST00000559340.2:c.654_655del ENSP00000453696.2:p.Gly219ProfsTer8
ENST00000560467.2:c.654_655del ENSP00000453513.2:p.Gly219ProfsTer8
ENST00000558518.6:c.654_655del MANE Select ENSP00000454071.1:p.Gly219ProfsTer8
ENST00000252444.9:c.908_909del
ENST00000455727.6:c.314-1832_314-1831del ENSP00000397829.2:n.314-1832_314-1831del
ENST00000535915.5:c.531_532del ENSP00000440520.1:p.Gly178ProfsTer8
ENST00000545707.5:c.314-1005_314-1004del ENSP00000437639.1:n.314-1005_314-1004del
ENST00000557933.5:c.654_655del ENSP00000453557.1:p.Gly219ProfsTer8
ENST00000558013.5:c.654_655del ENSP00000453346.1:p.Gly219ProfsTer8
ENST00000558518.5:c.654_655del ENSP00000454071.1:p.Gly219ProfsTer8
ENST00000560467.1:c.254_255del
NM_000527.4:c.654_655del , LRG_274t1:c.654_655del NP_000518.1:p.Gly219ProfsTer8
NM_001195798.1:c.654_655del NP_001182727.1:p.Gly219ProfsTer8
NM_001195799.1:c.531_532del NP_001182728.1:p.Gly178ProfsTer8
NM_001195800.1:c.314-1832_314-1831del NP_001182729.1:n.314-1832_314-1831del
NM_001195803.1:c.314-1005_314-1004del NP_001182732.1:n.314-1005_314-1004del
XM_011528010.1:c.654_655del XP_011526312.1:p.Gly219ProfsTer8
XM_011528011.1:c.314-1005_314-1004del XP_011526313.1:n.314-1005_314-1004del
XR_244074.2:n.804_805del
XM_011528010.2:c.654_655del XP_011526312.1:p.Gly219ProfsTer8
XR_001753685.2:n.771_772del
XR_001753686.2:n.771_772del
NM_000527.5:c.654_655del MANE Select NP_000518.1:p.Gly219ProfsTer8
NM_001195798.2:c.654_655del NP_001182727.1:p.Gly219ProfsTer8
NM_001195799.2:c.531_532del NP_001182728.1:p.Gly178ProfsTer8
NM_001195800.2:c.314-1832_314-1831del NP_001182729.1:n.314-1832_314-1831del
NM_001195803.2:c.314-1005_314-1004del NP_001182732.1:n.314-1005_314-1004del