Canonical Allele Identifier: CA2322767370

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105326_11105333delinsGGCCTCCT , CM000681.2:g.11105326_11105333delinsGGCCTCCT	GRCh38
NC_000019.9:g.11216002_11216009delinsGGCCTCCT , CM000681.1:g.11216002_11216009delinsGGCCTCCT	GRCh37
NC_000019.8:g.11077002_11077009delinsGGCCTCCT	NCBI36
NG_009060.1:g.20946_20953delinsGGCCTCCT , LRG_274:g.20946_20953delinsGGCCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.678_685delinsGGCCTCCT	ENSP00000252444.6:p.Glu226=
ENST00000559340.2:c.420_427delinsGGCCTCCT	ENSP00000453696.2:p.Glu140=
ENST00000560467.2:c.420_427delinsGGCCTCCT	ENSP00000453513.2:p.Glu140=
ENST00000558518.6:c.420_427delinsGGCCTCCT MANE Select	ENSP00000454071.1:p.Glu140=
ENST00000252444.9:c.674_681delinsGGCCTCCT
ENST00000455727.6:c.314-2066_314-2059delinsGGCCTCCT	ENSP00000397829.2:n.314-2066_314-2059delinsGGCCTCCT
ENST00000535915.5:c.297_304delinsGGCCTCCT	ENSP00000440520.1:p.Glu99=
ENST00000545707.5:c.314-1239_314-1232delinsGGCCTCCT	ENSP00000437639.1:n.314-1239_314-1232delinsGGCCTCCT
ENST00000557933.5:c.420_427delinsGGCCTCCT	ENSP00000453557.1:p.Glu140=
ENST00000558013.5:c.420_427delinsGGCCTCCT	ENSP00000453346.1:p.Glu140=
ENST00000558518.5:c.420_427delinsGGCCTCCT	ENSP00000454071.1:p.Glu140=
ENST00000560467.1:c.20_27delinsGGCCTCCT
NM_000527.4:c.420_427delinsGGCCTCCT , LRG_274t1:c.420_427delinsGGCCTCCT	NP_000518.1:p.Glu140=
NM_001195798.1:c.420_427delinsGGCCTCCT	NP_001182727.1:p.Glu140=
NM_001195799.1:c.297_304delinsGGCCTCCT	NP_001182728.1:p.Glu99=
NM_001195800.1:c.314-2066_314-2059delinsGGCCTCCT	NP_001182729.1:n.314-2066_314-2059delinsGGCCTCCT
NM_001195803.1:c.314-1239_314-1232delinsGGCCTCCT	NP_001182732.1:n.314-1239_314-1232delinsGGCCTCCT
XM_011528010.1:c.420_427delinsGGCCTCCT	XP_011526312.1:p.Glu140=
XM_011528011.1:c.314-1239_314-1232delinsGGCCTCCT	XP_011526313.1:n.314-1239_314-1232delinsGGCCTCCT
XR_244074.2:n.570_577delinsGGCCTCCT
XM_011528010.2:c.420_427delinsGGCCTCCT	XP_011526312.1:p.Glu140=
XR_001753685.2:n.537_544delinsGGCCTCCT
XR_001753686.2:n.537_544delinsGGCCTCCT
NM_000527.5:c.420_427delinsGGCCTCCT MANE Select	NP_000518.1:p.Glu140=
NM_001195798.2:c.420_427delinsGGCCTCCT	NP_001182727.1:p.Glu140=
NM_001195799.2:c.297_304delinsGGCCTCCT	NP_001182728.1:p.Glu99=
NM_001195800.2:c.314-2066_314-2059delinsGGCCTCCT	NP_001182729.1:n.314-2066_314-2059delinsGGCCTCCT
NM_001195803.2:c.314-1239_314-1232delinsGGCCTCCT	NP_001182732.1:n.314-1239_314-1232delinsGGCCTCCT