Canonical Allele Identifier: CA2322779533

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128037_11128040delinsGAGA , CM000681.2:g.11128037_11128040delinsGAGA	GRCh38
NC_000019.9:g.11238713_11238716delinsGAGA , CM000681.1:g.11238713_11238716delinsGAGA	GRCh37
NC_000019.8:g.11099713_11099716delinsGAGA	NCBI36
NG_009060.1:g.43657_43660delinsGAGA , LRG_274:g.43657_43660delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2599_2602delinsGAGA	ENSP00000252444.6:p.Glu867=
ENST00000559340.2:c.*410_*413delinsGAGA	ENSP00000453696.2:n.*410_*413delinsGAGA
ENST00000560467.2:c.2221_2224delinsGAGA	ENSP00000453513.2:p.Glu741=
ENST00000558518.6:c.2341_2344delinsGAGA MANE Select	ENSP00000454071.1:p.Glu781=
ENST00000252444.9:c.2595_2598delinsGAGA
ENST00000455727.6:c.1837_1840delinsGAGA	ENSP00000397829.2:p.Glu613=
ENST00000535915.5:c.2218_2221delinsGAGA	ENSP00000440520.1:p.Glu740=
ENST00000545707.5:c.1807_1810delinsGAGA	ENSP00000437639.1:p.Glu603=
ENST00000557933.5:c.2341_2344delinsGAGA	ENSP00000453557.1:p.Glu781=
ENST00000558013.5:c.2341_2344delinsGAGA	ENSP00000453346.1:p.Glu781=
ENST00000558518.5:c.2341_2344delinsGAGA	ENSP00000454071.1:p.Glu781=
ENST00000560628.1:n.108+383_108+386delinsGAGA
NM_000527.4:c.2341_2344delinsGAGA , LRG_274t1:c.2341_2344delinsGAGA	NP_000518.1:p.Glu781=
NM_001195798.1:c.2341_2344delinsGAGA	NP_001182727.1:p.Glu781=
NM_001195799.1:c.2218_2221delinsGAGA	NP_001182728.1:p.Glu740=
NM_001195800.1:c.1837_1840delinsGAGA	NP_001182729.1:p.Glu613=
NM_001195803.1:c.1807_1810delinsGAGA	NP_001182732.1:p.Glu603=
XM_011528010.1:c.2312-1476_2312-1473delinsGAGA	XP_011526312.1:n.2312-1476_2312-1473delinsGAGA
XM_011528011.1:c.1960_1963delinsGAGA	XP_011526313.1:p.Glu654=
XR_244074.2:n.2351_2354delinsGAGA
XM_011528010.2:c.2312-1476_2312-1473delinsGAGA	XP_011526312.1:n.2312-1476_2312-1473delinsGAGA
XR_001753685.2:n.2675_2678delinsGAGA
XR_001753686.2:n.2318_2321delinsGAGA
NM_000527.5:c.2341_2344delinsGAGA MANE Select	NP_000518.1:p.Glu781=
NM_001195798.2:c.2341_2344delinsGAGA	NP_001182727.1:p.Glu781=
NM_001195799.2:c.2218_2221delinsGAGA	NP_001182728.1:p.Glu740=
NM_001195800.2:c.1837_1840delinsGAGA	NP_001182729.1:p.Glu613=
NM_001195803.2:c.1807_1810delinsGAGA	NP_001182732.1:p.Glu603=