Canonical Allele Identifier: CA2695228147
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116913dup , CM000681.2:g.11116913dup GRCh38
NC_000019.9:g.11227589dup , CM000681.1:g.11227589dup GRCh37
NC_000019.8:g.11088589dup NCBI36
NG_009060.1:g.32533dup , LRG_274:g.32533dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2018dup ENSP00000252444.6:p.Ser673ArgfsTer16
ENST00000559340.2:c.1705+701dup ENSP00000453696.2:n.1705+701dup
ENST00000560467.2:c.1640dup ENSP00000453513.2:p.Ser547ArgfsTer16
ENST00000558518.6:c.1760dup MANE Select ENSP00000454071.1:p.Ser587ArgfsTer16
ENST00000252444.9:c.2014dup
ENST00000455727.6:c.1256dup ENSP00000397829.2:p.Ser419ArgfsTer16
ENST00000535915.5:c.1637dup ENSP00000440520.1:p.Ser546ArgfsTer16
ENST00000545707.5:c.1379dup ENSP00000437639.1:p.Ser460ArgfsTer16
ENST00000557933.5:c.1760dup ENSP00000453557.1:p.Ser587ArgfsTer16
ENST00000558013.5:c.1760dup ENSP00000453346.1:p.Ser587ArgfsTer16
ENST00000558518.5:c.1760dup ENSP00000454071.1:p.Ser587ArgfsTer16
ENST00000559340.1:c.426+701dup
NM_000527.4:c.1760dup , LRG_274t1:c.1760dup NP_000518.1:p.Ser587ArgfsTer16
NM_001195798.1:c.1760dup NP_001182727.1:p.Ser587ArgfsTer16
NM_001195799.1:c.1637dup NP_001182728.1:p.Ser546ArgfsTer16
NM_001195800.1:c.1256dup NP_001182729.1:p.Ser419ArgfsTer16
NM_001195803.1:c.1379dup NP_001182732.1:p.Ser460ArgfsTer16
XM_011528010.1:c.1760dup XP_011526312.1:p.Ser587ArgfsTer16
XM_011528011.1:c.1379dup XP_011526313.1:p.Ser460ArgfsTer16
XR_244074.2:n.1855+701dup
XM_011528010.2:c.1760dup XP_011526312.1:p.Ser587ArgfsTer16
XR_001753685.2:n.1877dup
XR_001753686.2:n.1822+701dup
NM_000527.5:c.1760dup MANE Select NP_000518.1:p.Ser587ArgfsTer16
NM_001195798.2:c.1760dup NP_001182727.1:p.Ser587ArgfsTer16
NM_001195799.2:c.1637dup NP_001182728.1:p.Ser546ArgfsTer16
NM_001195800.2:c.1256dup NP_001182729.1:p.Ser419ArgfsTer16
NM_001195803.2:c.1379dup NP_001182732.1:p.Ser460ArgfsTer16