Canonical Allele Identifier: CA2839542163

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116209dup , CM000681.2:g.11116209dup	GRCh38
NC_000019.9:g.11226885dup , CM000681.1:g.11226885dup	GRCh37
NC_000019.8:g.11087885dup	NCBI36
NG_009060.1:g.31829dup , LRG_274:g.31829dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1960dup	ENSP00000252444.6:p.Leu654ProfsTer12
ENST00000559340.2:c.1702dup	ENSP00000453696.2:p.Leu568ProfsTer?
ENST00000560467.2:c.1582dup	ENSP00000453513.2:p.Leu528ProfsTer12
ENST00000558518.6:c.1702dup MANE Select	ENSP00000454071.1:p.Leu568ProfsTer12
ENST00000252444.9:c.1956dup
ENST00000455727.6:c.1198dup	ENSP00000397829.2:p.Leu400ProfsTer12
ENST00000535915.5:c.1579dup	ENSP00000440520.1:p.Leu527ProfsTer12
ENST00000545707.5:c.1321dup	ENSP00000437639.1:p.Leu441ProfsTer12
ENST00000557933.5:c.1702dup	ENSP00000453557.1:p.Leu568ProfsTer12
ENST00000558013.5:c.1702dup	ENSP00000453346.1:p.Leu568ProfsTer12
ENST00000558518.5:c.1702dup	ENSP00000454071.1:p.Leu568ProfsTer12
ENST00000559340.1:c.423dup
NM_000527.4:c.1702dup , LRG_274t1:c.1702dup	NP_000518.1:p.Leu568ProfsTer12
NM_001195798.1:c.1702dup	NP_001182727.1:p.Leu568ProfsTer12
NM_001195799.1:c.1579dup	NP_001182728.1:p.Leu527ProfsTer12
NM_001195800.1:c.1198dup	NP_001182729.1:p.Leu400ProfsTer12
NM_001195803.1:c.1321dup	NP_001182732.1:p.Leu441ProfsTer12
XM_011528010.1:c.1702dup	XP_011526312.1:p.Leu568ProfsTer12
XM_011528011.1:c.1321dup	XP_011526313.1:p.Leu441ProfsTer12
XR_244074.2:n.1852dup
XM_011528010.2:c.1702dup	XP_011526312.1:p.Leu568ProfsTer12
XR_001753685.2:n.1819dup
XR_001753686.2:n.1819dup
NM_000527.5:c.1702dup MANE Select	NP_000518.1:p.Leu568ProfsTer12
NM_001195798.2:c.1702dup	NP_001182727.1:p.Leu568ProfsTer12
NM_001195799.2:c.1579dup	NP_001182728.1:p.Leu527ProfsTer12
NM_001195800.2:c.1198dup	NP_001182729.1:p.Leu400ProfsTer12
NM_001195803.2:c.1321dup	NP_001182732.1:p.Leu441ProfsTer12