Canonical Allele Identifier: CA2830763868
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105287_11105291del , CM000681.2:g.11105287_11105291del GRCh38
NC_000019.9:g.11215963_11215967del , CM000681.1:g.11215963_11215967del GRCh37
NC_000019.8:g.11076963_11076967del NCBI36
NG_009060.1:g.20907_20911del , LRG_274:g.20907_20911del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.639_643del ENSP00000252444.6:p.Cys214LeufsTer?
ENST00000559340.2:c.381_385del ENSP00000453696.2:p.Cys128LeufsTer?
ENST00000560467.2:c.381_385del ENSP00000453513.2:p.Cys128LeufsTer?
ENST00000558518.6:c.381_385del MANE Select ENSP00000454071.1:p.Cys128LeufsTer?
ENST00000252444.9:c.635_639del
ENST00000455727.6:c.314-2105_314-2101del ENSP00000397829.2:n.314-2105_314-2101del
ENST00000535915.5:c.258_262del ENSP00000440520.1:p.Cys87LeufsTer?
ENST00000545707.5:c.314-1278_314-1274del ENSP00000437639.1:n.314-1278_314-1274del
ENST00000557933.5:c.381_385del ENSP00000453557.1:p.Cys128LeufsTer?
ENST00000558013.5:c.381_385del ENSP00000453346.1:p.Cys128LeufsTer?
ENST00000558518.5:c.381_385del ENSP00000454071.1:p.Cys128LeufsTer?
NM_000527.4:c.381_385del , LRG_274t1:c.381_385del NP_000518.1:p.Cys128LeufsTer?
NM_001195798.1:c.381_385del NP_001182727.1:p.Cys128LeufsTer?
NM_001195799.1:c.258_262del NP_001182728.1:p.Cys87LeufsTer?
NM_001195800.1:c.314-2105_314-2101del NP_001182729.1:n.314-2105_314-2101del
NM_001195803.1:c.314-1278_314-1274del NP_001182732.1:n.314-1278_314-1274del
XM_011528010.1:c.381_385del XP_011526312.1:p.Cys128LeufsTer?
XM_011528011.1:c.314-1278_314-1274del XP_011526313.1:n.314-1278_314-1274del
XR_244074.2:n.531_535del
XM_011528010.2:c.381_385del XP_011526312.1:p.Cys128LeufsTer?
XR_001753685.2:n.498_502del
XR_001753686.2:n.498_502del
NM_000527.5:c.381_385del MANE Select NP_000518.1:p.Cys128LeufsTer?
NM_001195798.2:c.381_385del NP_001182727.1:p.Cys128LeufsTer?
NM_001195799.2:c.258_262del NP_001182728.1:p.Cys87LeufsTer?
NM_001195800.2:c.314-2105_314-2101del NP_001182729.1:n.314-2105_314-2101del
NM_001195803.2:c.314-1278_314-1274del NP_001182732.1:n.314-1278_314-1274del