Canonical Allele Identifier: CA2580612602

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2577317
• ClinVar RCV Id: RCV003324394

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105421_11105422delinsTT , CM000681.2:g.11105421_11105422delinsTT	GRCh38
NC_000019.9:g.11216097_11216098delinsTT , CM000681.1:g.11216097_11216098delinsTT	GRCh37
NC_000019.8:g.11077097_11077098delinsTT	NCBI36
NG_009060.1:g.21041_21042delinsTT , LRG_274:g.21041_21042delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.773_774delinsTT	ENSP00000252444.6:p.Asp258Val
ENST00000559340.2:c.515_516delinsTT	ENSP00000453696.2:p.Asp172Val
ENST00000560467.2:c.515_516delinsTT	ENSP00000453513.2:p.Asp172Val
ENST00000558518.6:c.515_516delinsTT MANE Select	ENSP00000454071.1:p.Asp172Val
ENST00000252444.9:c.769_770delinsTT
ENST00000455727.6:c.314-1971_314-1970delinsTT	ENSP00000397829.2:n.314-1971_314-1970delinsTT
ENST00000535915.5:c.392_393delinsTT	ENSP00000440520.1:p.Asp131Val
ENST00000545707.5:c.314-1144_314-1143delinsTT	ENSP00000437639.1:n.314-1144_314-1143delinsTT
ENST00000557933.5:c.515_516delinsTT	ENSP00000453557.1:p.Asp172Val
ENST00000558013.5:c.515_516delinsTT	ENSP00000453346.1:p.Asp172Val
ENST00000558518.5:c.515_516delinsTT	ENSP00000454071.1:p.Asp172Val
ENST00000560467.1:c.115_116delinsTT
NM_000527.4:c.515_516delinsTT , LRG_274t1:c.515_516delinsTT	NP_000518.1:p.Asp172Val
NM_001195798.1:c.515_516delinsTT	NP_001182727.1:p.Asp172Val
NM_001195799.1:c.392_393delinsTT	NP_001182728.1:p.Asp131Val
NM_001195800.1:c.314-1971_314-1970delinsTT	NP_001182729.1:n.314-1971_314-1970delinsTT
NM_001195803.1:c.314-1144_314-1143delinsTT	NP_001182732.1:n.314-1144_314-1143delinsTT
XM_011528010.1:c.515_516delinsTT	XP_011526312.1:p.Asp172Val
XM_011528011.1:c.314-1144_314-1143delinsTT	XP_011526313.1:n.314-1144_314-1143delinsTT
XR_244074.2:n.665_666delinsTT
XM_011528010.2:c.515_516delinsTT	XP_011526312.1:p.Asp172Val
XR_001753685.2:n.632_633delinsTT
XR_001753686.2:n.632_633delinsTT
NM_000527.5:c.515_516delinsTT MANE Select	NP_000518.1:p.Asp172Val
NM_001195798.2:c.515_516delinsTT	NP_001182727.1:p.Asp172Val
NM_001195799.2:c.392_393delinsTT	NP_001182728.1:p.Asp131Val
NM_001195800.2:c.314-1971_314-1970delinsTT	NP_001182729.1:n.314-1971_314-1970delinsTT
NM_001195803.2:c.314-1144_314-1143delinsTT	NP_001182732.1:n.314-1144_314-1143delinsTT