Canonical Allele Identifier: CA2497030143
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111616_11111628del , CM000681.2:g.11111616_11111628del GRCh38
NC_000019.9:g.11222292_11222304del , CM000681.1:g.11222292_11222304del GRCh37
NC_000019.8:g.11083292_11083304del NCBI36
NG_009060.1:g.27236_27248del , LRG_274:g.27236_27248del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1421_1433del ENSP00000252444.6:p.His474ProfsTer21
ENST00000559340.2:c.1163_1175del ENSP00000453696.2:p.His388ProfsTer21
ENST00000560467.2:c.1043_1055del ENSP00000453513.2:p.His348ProfsTer21
ENST00000558518.6:c.1163_1175del MANE Select ENSP00000454071.1:p.His388ProfsTer21
ENST00000252444.9:c.1417_1429del
ENST00000455727.6:c.659_671del ENSP00000397829.2:p.His220ProfsTer21
ENST00000535915.5:c.1040_1052del ENSP00000440520.1:p.His347ProfsTer21
ENST00000545707.5:c.782_794del ENSP00000437639.1:p.His261ProfsTer21
ENST00000557933.5:c.1163_1175del ENSP00000453557.1:p.His388ProfsTer21
ENST00000558013.5:c.1163_1175del ENSP00000453346.1:p.His388ProfsTer21
ENST00000558518.5:c.1163_1175del ENSP00000454071.1:p.His388ProfsTer21
ENST00000560173.1:n.162_174del
ENST00000560467.1:c.643_655del
NM_000527.4:c.1163_1175del , LRG_274t1:c.1163_1175del NP_000518.1:p.His388ProfsTer21
NM_001195798.1:c.1163_1175del NP_001182727.1:p.His388ProfsTer21
NM_001195799.1:c.1040_1052del NP_001182728.1:p.His347ProfsTer21
NM_001195800.1:c.659_671del NP_001182729.1:p.His220ProfsTer21
NM_001195803.1:c.782_794del NP_001182732.1:p.His261ProfsTer21
XM_011528010.1:c.1163_1175del XP_011526312.1:p.His388ProfsTer21
XM_011528011.1:c.782_794del XP_011526313.1:p.His261ProfsTer21
XR_244074.2:n.1313_1325del
XM_011528010.2:c.1163_1175del XP_011526312.1:p.His388ProfsTer21
XR_001753685.2:n.1280_1292del
XR_001753686.2:n.1280_1292del
NM_000527.5:c.1163_1175del MANE Select NP_000518.1:p.His388ProfsTer21
NM_001195798.2:c.1163_1175del NP_001182727.1:p.His388ProfsTer21
NM_001195799.2:c.1040_1052del NP_001182728.1:p.His347ProfsTer21
NM_001195800.2:c.659_671del NP_001182729.1:p.His220ProfsTer21
NM_001195803.2:c.782_794del NP_001182732.1:p.His261ProfsTer21