Canonical Allele Identifier: CA10584915

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251218
• ClinVar RCV Id: RCV000238129
• dbSNP Id: rs879254521
• MyVariant Identifiers: chr19:g.11216006_11216012del (hg19) ; chr19:g.11105330_11105336del (hg38)
• PubMed: PMID:20045108 ; PMID:21865347

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105330_11105336del , CM000681.2:g.11105330_11105336del	GRCh38
NC_000019.9:g.11216006_11216012del , CM000681.1:g.11216006_11216012del	GRCh37
NC_000019.8:g.11077006_11077012del	NCBI36
NG_009060.1:g.20950_20956del , LRG_274:g.20950_20956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.682_688del	ENSP00000252444.6:p.Ser228ArgfsTer?
ENST00000559340.2:c.424_430del	ENSP00000453696.2:p.Ser142ArgfsTer?
ENST00000560467.2:c.424_430del	ENSP00000453513.2:p.Ser142ArgfsTer?
ENST00000558518.6:c.424_430del MANE Select	ENSP00000454071.1:p.Ser142ArgfsTer?
ENST00000252444.9:c.678_684del
ENST00000455727.6:c.314-2062_314-2056del	ENSP00000397829.2:n.314-2062_314-2056del
ENST00000535915.5:c.301_307del	ENSP00000440520.1:p.Ser101ArgfsTer?
ENST00000545707.5:c.314-1235_314-1229del	ENSP00000437639.1:n.314-1235_314-1229del
ENST00000557933.5:c.424_430del	ENSP00000453557.1:p.Ser142ArgfsTer?
ENST00000558013.5:c.424_430del	ENSP00000453346.1:p.Ser142ArgfsTer?
ENST00000558518.5:c.424_430del	ENSP00000454071.1:p.Ser142ArgfsTer?
ENST00000560467.1:c.24_30del
NM_000527.4:c.424_430del , LRG_274t1:c.424_430del	NP_000518.1:p.Ser142ArgfsTer?
NM_001195798.1:c.424_430del	NP_001182727.1:p.Ser142ArgfsTer?
NM_001195799.1:c.301_307del	NP_001182728.1:p.Ser101ArgfsTer?
NM_001195800.1:c.314-2062_314-2056del	NP_001182729.1:n.314-2062_314-2056del
NM_001195803.1:c.314-1235_314-1229del	NP_001182732.1:n.314-1235_314-1229del
XM_011528010.1:c.424_430del	XP_011526312.1:p.Ser142ArgfsTer?
XM_011528011.1:c.314-1235_314-1229del	XP_011526313.1:n.314-1235_314-1229del
XR_244074.2:n.574_580del
XM_011528010.2:c.424_430del	XP_011526312.1:p.Ser142ArgfsTer?
XR_001753685.2:n.541_547del
XR_001753686.2:n.541_547del
NM_000527.5:c.424_430del MANE Select	NP_000518.1:p.Ser142ArgfsTer?
NM_001195798.2:c.424_430del	NP_001182727.1:p.Ser142ArgfsTer?
NM_001195799.2:c.301_307del	NP_001182728.1:p.Ser101ArgfsTer?
NM_001195800.2:c.314-2062_314-2056del	NP_001182729.1:n.314-2062_314-2056del
NM_001195803.2:c.314-1235_314-1229del	NP_001182732.1:n.314-1235_314-1229del