Canonical Allele Identifier: CA2573050604
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113737_11113738del , CM000681.2:g.11113737_11113738del GRCh38
NC_000019.9:g.11224413_11224414del , CM000681.1:g.11224413_11224414del GRCh37
NC_000019.8:g.11085413_11085414del NCBI36
NG_009060.1:g.29357_29358del , LRG_274:g.29357_29358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1819_1820del ENSP00000252444.6:p.Ala607HisfsTer14
ENST00000559340.2:c.1561_1562del ENSP00000453696.2:p.Ala521HisfsTer14
ENST00000560467.2:c.1441_1442del ENSP00000453513.2:p.Ala481HisfsTer14
ENST00000558518.6:c.1561_1562del MANE Select ENSP00000454071.1:p.Ala521HisfsTer14
ENST00000252444.9:c.1815_1816del
ENST00000455727.6:c.1057_1058del ENSP00000397829.2:p.Ala353HisfsTer14
ENST00000535915.5:c.1438_1439del ENSP00000440520.1:p.Ala480HisfsTer14
ENST00000545707.5:c.1180_1181del ENSP00000437639.1:p.Ala394HisfsTer14
ENST00000557933.5:c.1561_1562del ENSP00000453557.1:p.Ala521HisfsTer14
ENST00000558013.5:c.1561_1562del ENSP00000453346.1:p.Ala521HisfsTer14
ENST00000558518.5:c.1561_1562del ENSP00000454071.1:p.Ala521HisfsTer14
ENST00000559340.1:c.282_283del
NM_000527.4:c.1561_1562del , LRG_274t1:c.1561_1562del NP_000518.1:p.Ala521HisfsTer14
NM_001195798.1:c.1561_1562del NP_001182727.1:p.Ala521HisfsTer14
NM_001195799.1:c.1438_1439del NP_001182728.1:p.Ala480HisfsTer14
NM_001195800.1:c.1057_1058del NP_001182729.1:p.Ala353HisfsTer14
NM_001195803.1:c.1180_1181del NP_001182732.1:p.Ala394HisfsTer14
XM_011528010.1:c.1561_1562del XP_011526312.1:p.Ala521HisfsTer14
XM_011528011.1:c.1180_1181del XP_011526313.1:p.Ala394HisfsTer14
XR_244074.2:n.1711_1712del
XM_011528010.2:c.1561_1562del XP_011526312.1:p.Ala521HisfsTer14
XR_001753685.2:n.1678_1679del
XR_001753686.2:n.1678_1679del
NM_000527.5:c.1561_1562del MANE Select NP_000518.1:p.Ala521HisfsTer14
NM_001195798.2:c.1561_1562del NP_001182727.1:p.Ala521HisfsTer14
NM_001195799.2:c.1438_1439del NP_001182728.1:p.Ala480HisfsTer14
NM_001195800.2:c.1057_1058del NP_001182729.1:p.Ala353HisfsTer14
NM_001195803.2:c.1180_1181del NP_001182732.1:p.Ala394HisfsTer14