Canonical Allele Identifier: CA2573050602
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113722_11113723del , CM000681.2:g.11113722_11113723del GRCh38
NC_000019.9:g.11224398_11224399del , CM000681.1:g.11224398_11224399del GRCh37
NC_000019.8:g.11085398_11085399del NCBI36
NG_009060.1:g.29342_29343del , LRG_274:g.29342_29343del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1804_1805del ENSP00000252444.6:p.Gly602LeufsTer19
ENST00000559340.2:c.1546_1547del ENSP00000453696.2:p.Gly516LeufsTer19
ENST00000560467.2:c.1426_1427del ENSP00000453513.2:p.Gly476LeufsTer19
ENST00000558518.6:c.1546_1547del MANE Select ENSP00000454071.1:p.Gly516LeufsTer19
ENST00000252444.9:c.1800_1801del
ENST00000455727.6:c.1042_1043del ENSP00000397829.2:p.Gly348LeufsTer19
ENST00000535915.5:c.1423_1424del ENSP00000440520.1:p.Gly475LeufsTer19
ENST00000545707.5:c.1165_1166del ENSP00000437639.1:p.Gly389LeufsTer19
ENST00000557933.5:c.1546_1547del ENSP00000453557.1:p.Gly516LeufsTer19
ENST00000558013.5:c.1546_1547del ENSP00000453346.1:p.Gly516LeufsTer19
ENST00000558518.5:c.1546_1547del ENSP00000454071.1:p.Gly516LeufsTer19
ENST00000559340.1:c.267_268del
NM_000527.4:c.1546_1547del , LRG_274t1:c.1546_1547del NP_000518.1:p.Gly516LeufsTer19
NM_001195798.1:c.1546_1547del NP_001182727.1:p.Gly516LeufsTer19
NM_001195799.1:c.1423_1424del NP_001182728.1:p.Gly475LeufsTer19
NM_001195800.1:c.1042_1043del NP_001182729.1:p.Gly348LeufsTer19
NM_001195803.1:c.1165_1166del NP_001182732.1:p.Gly389LeufsTer19
XM_011528010.1:c.1546_1547del XP_011526312.1:p.Gly516LeufsTer19
XM_011528011.1:c.1165_1166del XP_011526313.1:p.Gly389LeufsTer19
XR_244074.2:n.1696_1697del
XM_011528010.2:c.1546_1547del XP_011526312.1:p.Gly516LeufsTer19
XR_001753685.2:n.1663_1664del
XR_001753686.2:n.1663_1664del
NM_000527.5:c.1546_1547del MANE Select NP_000518.1:p.Gly516LeufsTer19
NM_001195798.2:c.1546_1547del NP_001182727.1:p.Gly516LeufsTer19
NM_001195799.2:c.1423_1424del NP_001182728.1:p.Gly475LeufsTer19
NM_001195800.2:c.1042_1043del NP_001182729.1:p.Gly348LeufsTer19
NM_001195803.2:c.1165_1166del NP_001182732.1:p.Gly389LeufsTer19