Canonical Allele Identifier: CA2499225319

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1071946
• ClinVar RCV Id: RCV001384537
• dbSNP Id: rs2147248471

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113587del , CM000681.2:g.11113587del	GRCh38
NC_000019.9:g.11224263del , CM000681.1:g.11224263del	GRCh37
NC_000019.8:g.11085263del	NCBI36
NG_009060.1:g.29207del , LRG_274:g.29207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1669del	ENSP00000252444.6:p.Arg557GlufsTer?
ENST00000559340.2:c.1411del	ENSP00000453696.2:p.Arg471GlufsTer?
ENST00000560467.2:c.1291del	ENSP00000453513.2:p.Arg431GlufsTer?
ENST00000558518.6:c.1411del MANE Select	ENSP00000454071.1:p.Arg471GlufsTer?
ENST00000252444.9:c.1665del
ENST00000455727.6:c.907del	ENSP00000397829.2:p.Arg303GlufsTer?
ENST00000535915.5:c.1288del	ENSP00000440520.1:p.Arg430GlufsTer?
ENST00000545707.5:c.1030del	ENSP00000437639.1:p.Arg344GlufsTer?
ENST00000557933.5:c.1411del	ENSP00000453557.1:p.Arg471GlufsTer?
ENST00000558013.5:c.1411del	ENSP00000453346.1:p.Arg471GlufsTer?
ENST00000558518.5:c.1411del	ENSP00000454071.1:p.Arg471GlufsTer?
ENST00000559340.1:c.132del
ENST00000560467.1:c.891del
NM_000527.4:c.1411del , LRG_274t1:c.1411del	NP_000518.1:p.Arg471GlufsTer?
NM_001195798.1:c.1411del	NP_001182727.1:p.Arg471GlufsTer?
NM_001195799.1:c.1288del	NP_001182728.1:p.Arg430GlufsTer?
NM_001195800.1:c.907del	NP_001182729.1:p.Arg303GlufsTer?
NM_001195803.1:c.1030del	NP_001182732.1:p.Arg344GlufsTer?
XM_011528010.1:c.1411del	XP_011526312.1:p.Arg471GlufsTer?
XM_011528011.1:c.1030del	XP_011526313.1:p.Arg344GlufsTer?
XR_244074.2:n.1561del
XM_011528010.2:c.1411del	XP_011526312.1:p.Arg471GlufsTer?
XR_001753685.2:n.1528del
XR_001753686.2:n.1528del
NM_000527.5:c.1411del MANE Select	NP_000518.1:p.Arg471GlufsTer?
NM_001195798.2:c.1411del	NP_001182727.1:p.Arg471GlufsTer?
NM_001195799.2:c.1288del	NP_001182728.1:p.Arg430GlufsTer?
NM_001195800.2:c.907del	NP_001182729.1:p.Arg303GlufsTer?
NM_001195803.2:c.1030del	NP_001182732.1:p.Arg344GlufsTer?