Canonical Allele Identifier: CA2573050618

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120377_11120383dup , CM000681.2:g.11120377_11120383dup	GRCh38
NC_000019.9:g.11231053_11231059dup , CM000681.1:g.11231053_11231059dup	GRCh37
NC_000019.8:g.11092053_11092059dup	NCBI36
NG_009060.1:g.35997_36003dup , LRG_274:g.35997_36003dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2253_2259dup	ENSP00000252444.6:p.Glu754LeufsTer3
ENST00000559340.2:c.*64_*70dup	ENSP00000453696.2:n.*64_*70dup
ENST00000560467.2:c.1875_1881dup	ENSP00000453513.2:p.Glu628LeufsTer3
ENST00000558518.6:c.1995_2001dup MANE Select	ENSP00000454071.1:p.Glu668LeufsTer3
ENST00000252444.9:c.2249_2255dup
ENST00000455727.6:c.1491_1497dup	ENSP00000397829.2:p.Glu500LeufsTer3
ENST00000535915.5:c.1872_1878dup	ENSP00000440520.1:p.Glu627LeufsTer3
ENST00000545707.5:c.1606+144_1606+150dup	ENSP00000437639.1:n.1606+144_1606+150dup
ENST00000557933.5:c.1995_2001dup	ENSP00000453557.1:p.Glu668LeufsTer3
ENST00000558013.5:c.1995_2001dup	ENSP00000453346.1:p.Glu668LeufsTer3
ENST00000558518.5:c.1995_2001dup	ENSP00000454071.1:p.Glu668LeufsTer3
ENST00000559340.1:c.576_582dup
NM_000527.4:c.1995_2001dup , LRG_274t1:c.1995_2001dup	NP_000518.1:p.Glu668LeufsTer3
NM_001195798.1:c.1995_2001dup	NP_001182727.1:p.Glu668LeufsTer3
NM_001195799.1:c.1872_1878dup	NP_001182728.1:p.Glu627LeufsTer3
NM_001195800.1:c.1491_1497dup	NP_001182729.1:p.Glu500LeufsTer3
NM_001195803.1:c.1606+144_1606+150dup	NP_001182732.1:n.1606+144_1606+150dup
XM_011528010.1:c.1995_2001dup	XP_011526312.1:p.Glu668LeufsTer3
XM_011528011.1:c.1614_1620dup	XP_011526313.1:p.Glu541LeufsTer3
XR_244074.2:n.2005_2011dup
XM_011528010.2:c.1995_2001dup	XP_011526312.1:p.Glu668LeufsTer3
XR_001753685.2:n.2112_2118dup
XR_001753686.2:n.1972_1978dup
NM_000527.5:c.1995_2001dup MANE Select	NP_000518.1:p.Glu668LeufsTer3
NM_001195798.2:c.1995_2001dup	NP_001182727.1:p.Glu668LeufsTer3
NM_001195799.2:c.1872_1878dup	NP_001182728.1:p.Glu627LeufsTer3
NM_001195800.2:c.1491_1497dup	NP_001182729.1:p.Glu500LeufsTer3
NM_001195803.2:c.1606+144_1606+150dup	NP_001182732.1:n.1606+144_1606+150dup