Canonical Allele Identifier: CA2840392092

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129531dup , CM000681.2:g.11129531dup	GRCh38
NC_000019.9:g.11240207dup , CM000681.1:g.11240207dup	GRCh37
NC_000019.8:g.11101207dup	NCBI36
NG_009060.1:g.45151dup , LRG_274:g.45151dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2666dup	ENSP00000252444.6:p.Cys889TrpfsTer14
ENST00000559340.2:c.*477dup	ENSP00000453696.2:n.*477dup
ENST00000560467.2:c.2288dup	ENSP00000453513.2:p.Cys763TrpfsTer14
ENST00000558518.6:c.2408dup MANE Select	ENSP00000454071.1:p.Cys803TrpfsTer14
ENST00000252444.9:c.2662dup
ENST00000455727.6:c.1904dup	ENSP00000397829.2:p.Cys635TrpfsTer14
ENST00000535915.5:c.2285dup	ENSP00000440520.1:p.Cys762TrpfsTer14
ENST00000545707.5:c.1874dup	ENSP00000437639.1:p.Cys625TrpfsTer14
ENST00000557933.5:c.2470dup	ENSP00000453557.1:p.Ala824GlyfsTer?
ENST00000558013.5:c.2408dup	ENSP00000453346.1:p.Cys803TrpfsTer14
ENST00000558518.5:c.2408dup	ENSP00000454071.1:p.Cys803TrpfsTer14
ENST00000560628.1:n.108+1877dup
NM_000527.4:c.2408dup , LRG_274t1:c.2408dup	NP_000518.1:p.Cys803TrpfsTer14
NM_001195798.1:c.2408dup	NP_001182727.1:p.Cys803TrpfsTer14
NM_001195799.1:c.2285dup	NP_001182728.1:p.Cys762TrpfsTer14
NM_001195800.1:c.1904dup	NP_001182729.1:p.Cys635TrpfsTer14
NM_001195803.1:c.1874dup	NP_001182732.1:p.Cys625TrpfsTer14
XM_011528010.1:c.2330dup	XP_011526312.1:p.Cys777TrpfsTer14
XM_011528011.1:c.2027dup	XP_011526313.1:p.Cys676TrpfsTer14
XR_244074.2:n.2418dup
XM_011528010.2:c.2330dup	XP_011526312.1:p.Cys777TrpfsTer14
XR_001753685.2:n.2742dup
XR_001753686.2:n.2385dup
NM_000527.5:c.2408dup MANE Select	NP_000518.1:p.Cys803TrpfsTer14
NM_001195798.2:c.2408dup	NP_001182727.1:p.Cys803TrpfsTer14
NM_001195799.2:c.2285dup	NP_001182728.1:p.Cys762TrpfsTer14
NM_001195800.2:c.1904dup	NP_001182729.1:p.Cys635TrpfsTer14
NM_001195803.2:c.1874dup	NP_001182732.1:p.Cys625TrpfsTer14