Canonical Allele Identifier: CA2830763875
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120430del , CM000681.2:g.11120430del GRCh38
NC_000019.9:g.11231106del , CM000681.1:g.11231106del GRCh37
NC_000019.8:g.11092106del NCBI36
NG_009060.1:g.36050del , LRG_274:g.36050del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2306del ENSP00000252444.6:p.Pro769LeufsTer26
ENST00000559340.2:c.*117del ENSP00000453696.2:n.*117del
ENST00000560467.2:c.1928del ENSP00000453513.2:p.Pro643LeufsTer26
ENST00000558518.6:c.2048del MANE Select ENSP00000454071.1:p.Pro683LeufsTer26
ENST00000252444.9:c.2302del
ENST00000455727.6:c.1544del ENSP00000397829.2:p.Pro515LeufsTer26
ENST00000535915.5:c.1925del ENSP00000440520.1:p.Pro642LeufsTer26
ENST00000545707.5:c.1606+197del ENSP00000437639.1:n.1606+197del
ENST00000557933.5:c.2048del ENSP00000453557.1:p.Pro683LeufsTer26
ENST00000558013.5:c.2048del ENSP00000453346.1:p.Pro683LeufsTer26
ENST00000558518.5:c.2048del ENSP00000454071.1:p.Pro683LeufsTer26
NM_000527.4:c.2048del , LRG_274t1:c.2048del NP_000518.1:p.Pro683LeufsTer26
NM_001195798.1:c.2048del NP_001182727.1:p.Pro683LeufsTer26
NM_001195799.1:c.1925del NP_001182728.1:p.Pro642LeufsTer26
NM_001195800.1:c.1544del NP_001182729.1:p.Pro515LeufsTer26
NM_001195803.1:c.1606+197del NP_001182732.1:n.1606+197del
XM_011528010.1:c.2048del XP_011526312.1:p.Pro683LeufsTer26
XM_011528011.1:c.1667del XP_011526313.1:p.Pro556LeufsTer26
XR_244074.2:n.2058del
XM_011528010.2:c.2048del XP_011526312.1:p.Pro683LeufsTer26
XR_001753685.2:n.2165del
XR_001753686.2:n.2025del
NM_000527.5:c.2048del MANE Select NP_000518.1:p.Pro683LeufsTer26
NM_001195798.2:c.2048del NP_001182727.1:p.Pro683LeufsTer26
NM_001195799.2:c.1925del NP_001182728.1:p.Pro642LeufsTer26
NM_001195800.2:c.1544del NP_001182729.1:p.Pro515LeufsTer26
NM_001195803.2:c.1606+197del NP_001182732.1:n.1606+197del