Canonical Allele Identifier: CA2322767642

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105596_11105618delinsCTGCGGTATGGGCGGGGCCAGGG , CM000681.2:g.11105596_11105618delinsCTGCGGTATGGGCGGGGCCAGGG	GRCh38
NC_000019.9:g.11216272_11216294delinsCTGCGGTATGGGCGGGGCCAGGG , CM000681.1:g.11216272_11216294delinsCTGCGGTATGGGCGGGGCCAGGG	GRCh37
NC_000019.8:g.11077272_11077294delinsCTGCGGTATGGGCGGGGCCAGGG	NCBI36
NG_009060.1:g.21216_21238delinsCTGCGGTATGGGCGGGGCCAGGG , LRG_274:g.21216_21238delinsCTGCGGTATGGGCGGGGCCAGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.948_952+18delinsCTGCGGTATGGGCGGGGCCAGGG
ENST00000559340.2:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG
ENST00000560467.2:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG
ENST00000558518.6:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG
ENST00000252444.9:c.944_948+18delinsCTGCGGTATGGGCGGGGCCAGGG
ENST00000455727.6:c.314-1796_314-1774delinsCTGCGGTATGGGCGGGGCCAGGG	ENSP00000397829.2:n.314-1796_314-1774deli...
ENST00000535915.5:c.567_571+18delinsCTGCGGTATGGGCGGGGCCAGGG
ENST00000545707.5:c.314-969_314-947delinsCTGCGGTATGGGCGGGGCCAGGG	ENSP00000437639.1:n.314-969_314-947delins...
ENST00000557933.5:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG
ENST00000558013.5:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG
ENST00000558518.5:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG
ENST00000560467.1:c.290_294+18delinsCTGCGGTATGGGCGGGGCCAGGG
NM_000527.4:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG , LRG_274t1:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG
NM_001195798.1:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG
NM_001195799.1:c.567_571+18delinsCTGCGGTATGGGCGGGGCCAGGG
NM_001195800.1:c.314-1796_314-1774delinsCTGCGGTATGGGCGGGGCCAGGG	NP_001182729.1:n.314-1796_314-1774delinsC...
NM_001195803.1:c.314-969_314-947delinsCTGCGGTATGGGCGGGGCCAGGG	NP_001182732.1:n.314-969_314-947delinsCTG...
XM_011528010.1:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG
XM_011528011.1:c.314-969_314-947delinsCTGCGGTATGGGCGGGGCCAGGG	XP_011526313.1:n.314-969_314-947delinsCTG...
XR_244074.2:n.840_844+18delinsCTGCGGTATGGGCGGGGCCAGGG
XM_011528010.2:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG
XR_001753685.2:n.807_811+18delinsCTGCGGTATGGGCGGGGCCAGGG
XR_001753686.2:n.807_811+18delinsCTGCGGTATGGGCGGGGCCAGGG
NM_000527.5:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG
NM_001195798.2:c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG
NM_001195799.2:c.567_571+18delinsCTGCGGTATGGGCGGGGCCAGGG
NM_001195800.2:c.314-1796_314-1774delinsCTGCGGTATGGGCGGGGCCAGGG	NP_001182729.1:n.314-1796_314-1774delinsC...
NM_001195803.2:c.314-969_314-947delinsCTGCGGTATGGGCGGGGCCAGGG	NP_001182732.1:n.314-969_314-947delinsCTG...