Canonical Allele Identifier: CA2695238667
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120503del , CM000681.2:g.11120503del GRCh38
NC_000019.9:g.11231179del , CM000681.1:g.11231179del GRCh37
NC_000019.8:g.11092179del NCBI36
NG_009060.1:g.36123del , LRG_274:g.36123del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2379del ENSP00000252444.6:p.Asp793GlufsTer2
ENST00000559340.2:c.*190del ENSP00000453696.2:n.*190del
ENST00000560467.2:c.2001del ENSP00000453513.2:p.Asp667GlufsTer2
ENST00000558518.6:c.2121del MANE Select ENSP00000454071.1:p.Asp707GlufsTer2
ENST00000252444.9:c.2375del
ENST00000455727.6:c.1617del ENSP00000397829.2:p.Asp539GlufsTer2
ENST00000535915.5:c.1998del ENSP00000440520.1:p.Asp666GlufsTer2
ENST00000545707.5:c.1606+270del ENSP00000437639.1:n.1606+270del
ENST00000557933.5:c.2121del ENSP00000453557.1:p.Asp707GlufsTer2
ENST00000558013.5:c.2121del ENSP00000453346.1:p.Asp707GlufsTer2
ENST00000558518.5:c.2121del ENSP00000454071.1:p.Asp707GlufsTer2
NM_000527.4:c.2121del , LRG_274t1:c.2121del NP_000518.1:p.Asp707GlufsTer2
NM_001195798.1:c.2121del NP_001182727.1:p.Asp707GlufsTer2
NM_001195799.1:c.1998del NP_001182728.1:p.Asp666GlufsTer2
NM_001195800.1:c.1617del NP_001182729.1:p.Asp539GlufsTer2
NM_001195803.1:c.1606+270del NP_001182732.1:n.1606+270del
XM_011528010.1:c.2121del XP_011526312.1:p.Asp707GlufsTer2
XM_011528011.1:c.1740del XP_011526313.1:p.Asp580GlufsTer2
XR_244074.2:n.2131del
XM_011528010.2:c.2121del XP_011526312.1:p.Asp707GlufsTer2
XR_001753685.2:n.2238del
XR_001753686.2:n.2098del
NM_000527.5:c.2121del MANE Select NP_000518.1:p.Asp707GlufsTer2
NM_001195798.2:c.2121del NP_001182727.1:p.Asp707GlufsTer2
NM_001195799.2:c.1998del NP_001182728.1:p.Asp666GlufsTer2
NM_001195800.2:c.1617del NP_001182729.1:p.Asp539GlufsTer2
NM_001195803.2:c.1606+270del NP_001182732.1:n.1606+270del