Canonical Allele Identifier: CA2497030118

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105384_11105392del , CM000681.2:g.11105384_11105392del	GRCh38
NC_000019.9:g.11216060_11216068del , CM000681.1:g.11216060_11216068del	GRCh37
NC_000019.8:g.11077060_11077068del	NCBI36
NG_009060.1:g.21004_21012del , LRG_274:g.21004_21012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.736_744del	ENSP00000252444.6:p.Cys246_Pro248del
ENST00000559340.2:c.478_486del	ENSP00000453696.2:p.Cys160_Pro162del
ENST00000560467.2:c.478_486del	ENSP00000453513.2:p.Cys160_Pro162del
ENST00000558518.6:c.478_486del MANE Select	ENSP00000454071.1:p.Cys160_Pro162del
ENST00000252444.9:c.732_740del
ENST00000455727.6:c.314-2008_314-2000del	ENSP00000397829.2:n.314-2008_314-2000del
ENST00000535915.5:c.355_363del	ENSP00000440520.1:p.Cys119_Pro121del
ENST00000545707.5:c.314-1181_314-1173del	ENSP00000437639.1:n.314-1181_314-1173del
ENST00000557933.5:c.478_486del	ENSP00000453557.1:p.Cys160_Pro162del
ENST00000558013.5:c.478_486del	ENSP00000453346.1:p.Cys160_Pro162del
ENST00000558518.5:c.478_486del	ENSP00000454071.1:p.Cys160_Pro162del
ENST00000560467.1:c.78_86del
NM_000527.4:c.478_486del , LRG_274t1:c.478_486del	NP_000518.1:p.Cys160_Pro162del
NM_001195798.1:c.478_486del	NP_001182727.1:p.Cys160_Pro162del
NM_001195799.1:c.355_363del	NP_001182728.1:p.Cys119_Pro121del
NM_001195800.1:c.314-2008_314-2000del	NP_001182729.1:n.314-2008_314-2000del
NM_001195803.1:c.314-1181_314-1173del	NP_001182732.1:n.314-1181_314-1173del
XM_011528010.1:c.478_486del	XP_011526312.1:p.Cys160_Pro162del
XM_011528011.1:c.314-1181_314-1173del	XP_011526313.1:n.314-1181_314-1173del
XR_244074.2:n.628_636del
XM_011528010.2:c.478_486del	XP_011526312.1:p.Cys160_Pro162del
XR_001753685.2:n.595_603del
XR_001753686.2:n.595_603del
NM_000527.5:c.478_486del MANE Select	NP_000518.1:p.Cys160_Pro162del
NM_001195798.2:c.478_486del	NP_001182727.1:p.Cys160_Pro162del
NM_001195799.2:c.355_363del	NP_001182728.1:p.Cys119_Pro121del
NM_001195800.2:c.314-2008_314-2000del	NP_001182729.1:n.314-2008_314-2000del
NM_001195803.2:c.314-1181_314-1173del	NP_001182732.1:n.314-1181_314-1173del