Canonical Allele Identifier: CA2582473462

Gene: LDLR

Linked Data

• gnomAD v4: 19-11105345-ACCTGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105346_11105352del , CM000681.2:g.11105346_11105352del	GRCh38
NC_000019.9:g.11216022_11216028del , CM000681.1:g.11216022_11216028del	GRCh37
NC_000019.8:g.11077022_11077028del	NCBI36
NG_009060.1:g.20966_20972del , LRG_274:g.20966_20972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.698_704del	ENSP00000252444.6:p.Thr233IlefsTer?
ENST00000559340.2:c.440_446del	ENSP00000453696.2:p.Thr147IlefsTer?
ENST00000560467.2:c.440_446del	ENSP00000453513.2:p.Thr147IlefsTer?
ENST00000558518.6:c.440_446del MANE Select	ENSP00000454071.1:p.Thr147IlefsTer?
ENST00000252444.9:c.694_700del
ENST00000455727.6:c.314-2046_314-2040del	ENSP00000397829.2:n.314-2046_314-2040del
ENST00000535915.5:c.317_323del	ENSP00000440520.1:p.Thr106IlefsTer?
ENST00000545707.5:c.314-1219_314-1213del	ENSP00000437639.1:n.314-1219_314-1213del
ENST00000557933.5:c.440_446del	ENSP00000453557.1:p.Thr147IlefsTer?
ENST00000558013.5:c.440_446del	ENSP00000453346.1:p.Thr147IlefsTer?
ENST00000558518.5:c.440_446del	ENSP00000454071.1:p.Thr147IlefsTer?
ENST00000560467.1:c.40_46del
NM_000527.4:c.440_446del , LRG_274t1:c.440_446del	NP_000518.1:p.Thr147IlefsTer?
NM_001195798.1:c.440_446del	NP_001182727.1:p.Thr147IlefsTer?
NM_001195799.1:c.317_323del	NP_001182728.1:p.Thr106IlefsTer?
NM_001195800.1:c.314-2046_314-2040del	NP_001182729.1:n.314-2046_314-2040del
NM_001195803.1:c.314-1219_314-1213del	NP_001182732.1:n.314-1219_314-1213del
XM_011528010.1:c.440_446del	XP_011526312.1:p.Thr147IlefsTer?
XM_011528011.1:c.314-1219_314-1213del	XP_011526313.1:n.314-1219_314-1213del
XR_244074.2:n.590_596del
XM_011528010.2:c.440_446del	XP_011526312.1:p.Thr147IlefsTer?
XR_001753685.2:n.557_563del
XR_001753686.2:n.557_563del
NM_000527.5:c.440_446del MANE Select	NP_000518.1:p.Thr147IlefsTer?
NM_001195798.2:c.440_446del	NP_001182727.1:p.Thr147IlefsTer?
NM_001195799.2:c.317_323del	NP_001182728.1:p.Thr106IlefsTer?
NM_001195800.2:c.314-2046_314-2040del	NP_001182729.1:n.314-2046_314-2040del
NM_001195803.2:c.314-1219_314-1213del	NP_001182732.1:n.314-1219_314-1213del