Canonical Allele Identifier: CA2830763874
Gene: LDLR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105207_11105225del , CM000681.2:g.11105207_11105225del GRCh38
NC_000019.9:g.11215883_11215901del , CM000681.1:g.11215883_11215901del GRCh37
NC_000019.8:g.11076883_11076901del NCBI36
NG_009060.1:g.20827_20845del , LRG_274:g.20827_20845del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.572-13_577del
ENST00000559340.2:c.314-13_319del
ENST00000560467.2:c.314-13_319del
ENST00000558518.6:c.314-13_319del
ENST00000252444.9:c.568-13_573del
ENST00000455727.6:c.314-2185_314-2167del ENSP00000397829.2:n.314-2185_314-2167del
ENST00000535915.5:c.191-13_196del
ENST00000545707.5:c.314-1358_314-1340del ENSP00000437639.1:n.314-1358_314-1340del
ENST00000557933.5:c.314-13_319del
ENST00000558013.5:c.314-13_319del
ENST00000558518.5:c.314-13_319del
NM_000527.4:c.314-13_319del , LRG_274t1:c.314-13_319del
NM_001195798.1:c.314-13_319del
NM_001195799.1:c.191-13_196del
NM_001195800.1:c.314-2185_314-2167del NP_001182729.1:n.314-2185_314-2167del
NM_001195803.1:c.314-1358_314-1340del NP_001182732.1:n.314-1358_314-1340del
XM_011528010.1:c.314-13_319del
XM_011528011.1:c.314-1358_314-1340del XP_011526313.1:n.314-1358_314-1340del
XR_244074.2:n.464-13_469del
XM_011528010.2:c.314-13_319del
XR_001753685.2:n.431-13_436del
XR_001753686.2:n.431-13_436del
NM_000527.5:c.314-13_319del
NM_001195798.2:c.314-13_319del
NM_001195799.2:c.191-13_196del
NM_001195800.2:c.314-2185_314-2167del NP_001182729.1:n.314-2185_314-2167del
NM_001195803.2:c.314-1358_314-1340del NP_001182732.1:n.314-1358_314-1340del
Search 100 bp 5'
Search 100 bp 3'