Canonical Allele Identifier: CA2322768141

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106564_11106574delinsGCTGTGGCCAC , CM000681.2:g.11106564_11106574delinsGCTGTGGCCAC	GRCh38
NC_000019.9:g.11217240_11217250delinsGCTGTGGCCAC , CM000681.1:g.11217240_11217250delinsGCTGTGGCCAC	GRCh37
NC_000019.8:g.11078240_11078250delinsGCTGTGGCCAC	NCBI36
NG_009060.1:g.22184_22194delinsGCTGTGGCCAC , LRG_274:g.22184_22194delinsGCTGTGGCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.953-1_962delinsGCTGTGGCCAC
ENST00000559340.2:c.695-1_704delinsGCTGTGGCCAC
ENST00000560467.2:c.695-1_704delinsGCTGTGGCCAC
ENST00000558518.6:c.695-1_704delinsGCTGTGGCCAC
ENST00000252444.9:c.949-1_958delinsGCTGTGGCCAC
ENST00000455727.6:c.314-828_314-818delinsGCTGTGGCCAC	ENSP00000397829.2:n.314-828_314-818delinsGCTGTGGCCAC
ENST00000535915.5:c.572-1_581delinsGCTGTGGCCAC
ENST00000545707.5:c.314-1_323delinsGCTGTGGCCAC
ENST00000557933.5:c.695-1_704delinsGCTGTGGCCAC
ENST00000558013.5:c.695-1_704delinsGCTGTGGCCAC
ENST00000558518.5:c.695-1_704delinsGCTGTGGCCAC
ENST00000558528.1:n.209_219delinsGCTGTGGCCAC
ENST00000560467.1:c.295-1_304delinsGCTGTGGCCAC
NM_000527.4:c.695-1_704delinsGCTGTGGCCAC , LRG_274t1:c.695-1_704delinsGCTGTGGCCAC
NM_001195798.1:c.695-1_704delinsGCTGTGGCCAC
NM_001195799.1:c.572-1_581delinsGCTGTGGCCAC
NM_001195800.1:c.314-828_314-818delinsGCTGTGGCCAC	NP_001182729.1:n.314-828_314-818delinsGCTGTGGCCAC
NM_001195803.1:c.314-1_323delinsGCTGTGGCCAC
XM_011528010.1:c.695-1_704delinsGCTGTGGCCAC
XM_011528011.1:c.314-1_323delinsGCTGTGGCCAC
XR_244074.2:n.845-1_854delinsGCTGTGGCCAC
XM_011528010.2:c.695-1_704delinsGCTGTGGCCAC
XR_001753685.2:n.812-1_821delinsGCTGTGGCCAC
XR_001753686.2:n.812-1_821delinsGCTGTGGCCAC
NM_000527.5:c.695-1_704delinsGCTGTGGCCAC
NM_001195798.2:c.695-1_704delinsGCTGTGGCCAC
NM_001195799.2:c.572-1_581delinsGCTGTGGCCAC
NM_001195800.2:c.314-828_314-818delinsGCTGTGGCCAC	NP_001182729.1:n.314-828_314-818delinsGCTGTGGCCAC
NM_001195803.2:c.314-1_323delinsGCTGTGGCCAC