Canonical Allele Identifier: CA2830773958
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116904_11116905del , CM000681.2:g.11116904_11116905del GRCh38
NC_000019.9:g.11227580_11227581del , CM000681.1:g.11227580_11227581del GRCh37
NC_000019.8:g.11088580_11088581del NCBI36
NG_009060.1:g.32524_32525del , LRG_274:g.32524_32525del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2009_2010del ENSP00000252444.6:p.Ser670TyrfsTer18
ENST00000559340.2:c.1705+692_1705+693del ENSP00000453696.2:n.1705+692_1705+693del
ENST00000560467.2:c.1631_1632del ENSP00000453513.2:p.Ser544TyrfsTer18
ENST00000558518.6:c.1751_1752del MANE Select ENSP00000454071.1:p.Ser584TyrfsTer18
ENST00000252444.9:c.2005_2006del
ENST00000455727.6:c.1247_1248del ENSP00000397829.2:p.Ser416TyrfsTer18
ENST00000535915.5:c.1628_1629del ENSP00000440520.1:p.Ser543TyrfsTer18
ENST00000545707.5:c.1370_1371del ENSP00000437639.1:p.Ser457TyrfsTer18
ENST00000557933.5:c.1751_1752del ENSP00000453557.1:p.Ser584TyrfsTer18
ENST00000558013.5:c.1751_1752del ENSP00000453346.1:p.Ser584TyrfsTer18
ENST00000558518.5:c.1751_1752del ENSP00000454071.1:p.Ser584TyrfsTer18
ENST00000559340.1:c.426+692_426+693del
NM_000527.4:c.1751_1752del , LRG_274t1:c.1751_1752del NP_000518.1:p.Ser584TyrfsTer18
NM_001195798.1:c.1751_1752del NP_001182727.1:p.Ser584TyrfsTer18
NM_001195799.1:c.1628_1629del NP_001182728.1:p.Ser543TyrfsTer18
NM_001195800.1:c.1247_1248del NP_001182729.1:p.Ser416TyrfsTer18
NM_001195803.1:c.1370_1371del NP_001182732.1:p.Ser457TyrfsTer18
XM_011528010.1:c.1751_1752del XP_011526312.1:p.Ser584TyrfsTer18
XM_011528011.1:c.1370_1371del XP_011526313.1:p.Ser457TyrfsTer18
XR_244074.2:n.1855+692_1855+693del
XM_011528010.2:c.1751_1752del XP_011526312.1:p.Ser584TyrfsTer18
XR_001753685.2:n.1868_1869del
XR_001753686.2:n.1822+692_1822+693del
NM_000527.5:c.1751_1752del MANE Select NP_000518.1:p.Ser584TyrfsTer18
NM_001195798.2:c.1751_1752del NP_001182727.1:p.Ser584TyrfsTer18
NM_001195799.2:c.1628_1629del NP_001182728.1:p.Ser543TyrfsTer18
NM_001195800.2:c.1247_1248del NP_001182729.1:p.Ser416TyrfsTer18
NM_001195803.2:c.1370_1371del NP_001182732.1:p.Ser457TyrfsTer18