Canonical Allele Identifier: CA2695238660
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120146del , CM000681.2:g.11120146del GRCh38
NC_000019.9:g.11230822del , CM000681.1:g.11230822del GRCh37
NC_000019.8:g.11091822del NCBI36
NG_009060.1:g.35766del , LRG_274:g.35766del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2158del ENSP00000252444.6:p.Leu720SerfsTer?
ENST00000559340.2:c.1760del ENSP00000453696.2:p.Pro587LeufsTer?
ENST00000560467.2:c.1780del ENSP00000453513.2:p.Leu594SerfsTer?
ENST00000558518.6:c.1900del MANE Select ENSP00000454071.1:p.Leu634SerfsTer?
ENST00000252444.9:c.2154del
ENST00000455727.6:c.1396del ENSP00000397829.2:p.Leu466SerfsTer?
ENST00000535915.5:c.1777del ENSP00000440520.1:p.Leu593SerfsTer?
ENST00000545707.5:c.1519del ENSP00000437639.1:p.Leu507SerfsTer?
ENST00000557933.5:c.1900del ENSP00000453557.1:p.Leu634SerfsTer?
ENST00000558013.5:c.1900del ENSP00000453346.1:p.Leu634SerfsTer?
ENST00000558518.5:c.1900del ENSP00000454071.1:p.Leu634SerfsTer?
ENST00000559340.1:c.481del
NM_000527.4:c.1900del , LRG_274t1:c.1900del NP_000518.1:p.Leu634SerfsTer?
NM_001195798.1:c.1900del NP_001182727.1:p.Leu634SerfsTer?
NM_001195799.1:c.1777del NP_001182728.1:p.Leu593SerfsTer?
NM_001195800.1:c.1396del NP_001182729.1:p.Leu466SerfsTer?
NM_001195803.1:c.1519del NP_001182732.1:p.Leu507SerfsTer?
XM_011528010.1:c.1900del XP_011526312.1:p.Leu634SerfsTer?
XM_011528011.1:c.1519del XP_011526313.1:p.Leu507SerfsTer?
XR_244074.2:n.1910del
XM_011528010.2:c.1900del XP_011526312.1:p.Leu634SerfsTer?
XR_001753685.2:n.2017del
XR_001753686.2:n.1877del
NM_000527.5:c.1900del MANE Select NP_000518.1:p.Leu634SerfsTer?
NM_001195798.2:c.1900del NP_001182727.1:p.Leu634SerfsTer?
NM_001195799.2:c.1777del NP_001182728.1:p.Leu593SerfsTer?
NM_001195800.2:c.1396del NP_001182729.1:p.Leu466SerfsTer?
NM_001195803.2:c.1519del NP_001182732.1:p.Leu507SerfsTer?