Canonical Allele Identifier: CA2695228170
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120386del , CM000681.2:g.11120386del GRCh38
NC_000019.9:g.11231062del , CM000681.1:g.11231062del GRCh37
NC_000019.8:g.11092062del NCBI36
NG_009060.1:g.36006del , LRG_274:g.36006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2262del ENSP00000252444.6:p.Arg755GlyfsTer4
ENST00000559340.2:c.*73del ENSP00000453696.2:n.*73del
ENST00000560467.2:c.1884del ENSP00000453513.2:p.Arg629GlyfsTer4
ENST00000558518.6:c.2004del MANE Select ENSP00000454071.1:p.Arg669GlyfsTer4
ENST00000252444.9:c.2258del
ENST00000455727.6:c.1500del ENSP00000397829.2:p.Arg501GlyfsTer4
ENST00000535915.5:c.1881del ENSP00000440520.1:p.Arg628GlyfsTer4
ENST00000545707.5:c.1606+153del ENSP00000437639.1:n.1606+153del
ENST00000557933.5:c.2004del ENSP00000453557.1:p.Arg669GlyfsTer4
ENST00000558013.5:c.2004del ENSP00000453346.1:p.Arg669GlyfsTer4
ENST00000558518.5:c.2004del ENSP00000454071.1:p.Arg669GlyfsTer4
ENST00000559340.1:c.585del
NM_000527.4:c.2004del , LRG_274t1:c.2004del NP_000518.1:p.Arg669GlyfsTer4
NM_001195798.1:c.2004del NP_001182727.1:p.Arg669GlyfsTer4
NM_001195799.1:c.1881del NP_001182728.1:p.Arg628GlyfsTer4
NM_001195800.1:c.1500del NP_001182729.1:p.Arg501GlyfsTer4
NM_001195803.1:c.1606+153del NP_001182732.1:n.1606+153del
XM_011528010.1:c.2004del XP_011526312.1:p.Arg669GlyfsTer4
XM_011528011.1:c.1623del XP_011526313.1:p.Arg542GlyfsTer4
XR_244074.2:n.2014del
XM_011528010.2:c.2004del XP_011526312.1:p.Arg669GlyfsTer4
XR_001753685.2:n.2121del
XR_001753686.2:n.1981del
NM_000527.5:c.2004del MANE Select NP_000518.1:p.Arg669GlyfsTer4
NM_001195798.2:c.2004del NP_001182727.1:p.Arg669GlyfsTer4
NM_001195799.2:c.1881del NP_001182728.1:p.Arg628GlyfsTer4
NM_001195800.2:c.1500del NP_001182729.1:p.Arg501GlyfsTer4
NM_001195803.2:c.1606+153del NP_001182732.1:n.1606+153del