Canonical Allele Identifier: CA10585476

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251866
• ClinVar RCV Id: RCV000237492
• dbSNP Id: rs879254919
• MyVariant Identifiers: chr19:g.11224329_11224331delinsAGAGACA (hg19) ; chr19:g.11113653_11113655delinsAGAGACA (hg38)
• PubMed: PMID:11257256

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113653_11113655delinsAGAGACA , CM000681.2:g.11113653_11113655delinsAGAGACA	GRCh38
NC_000019.9:g.11224329_11224331delinsAGAGACA , CM000681.1:g.11224329_11224331delinsAGAGACA	GRCh37
NC_000019.8:g.11085329_11085331delinsAGAGACA	NCBI36
NG_009060.1:g.29273_29275delinsAGAGACA , LRG_274:g.29273_29275delinsAGAGACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1735_1737delinsAGAGACA	ENSP00000252444.6:p.Ser579ArgfsTer?
ENST00000559340.2:c.1477_1479delinsAGAGACA	ENSP00000453696.2:p.Ser493ArgfsTer?
ENST00000560467.2:c.1357_1359delinsAGAGACA	ENSP00000453513.2:p.Ser453ArgfsTer?
ENST00000558518.6:c.1477_1479delinsAGAGACA MANE Select	ENSP00000454071.1:p.Ser493ArgfsTer?
ENST00000252444.9:c.1731_1733delinsAGAGACA
ENST00000455727.6:c.973_975delinsAGAGACA	ENSP00000397829.2:p.Ser325ArgfsTer?
ENST00000535915.5:c.1354_1356delinsAGAGACA	ENSP00000440520.1:p.Ser452ArgfsTer?
ENST00000545707.5:c.1096_1098delinsAGAGACA	ENSP00000437639.1:p.Ser366ArgfsTer?
ENST00000557933.5:c.1477_1479delinsAGAGACA	ENSP00000453557.1:p.Ser493ArgfsTer?
ENST00000558013.5:c.1477_1479delinsAGAGACA	ENSP00000453346.1:p.Ser493ArgfsTer?
ENST00000558518.5:c.1477_1479delinsAGAGACA	ENSP00000454071.1:p.Ser493ArgfsTer?
ENST00000559340.1:c.198_200delinsAGAGACA
NM_000527.4:c.1477_1479delinsAGAGACA , LRG_274t1:c.1477_1479delinsAGAGACA	NP_000518.1:p.Ser493ArgfsTer?
NM_001195798.1:c.1477_1479delinsAGAGACA	NP_001182727.1:p.Ser493ArgfsTer?
NM_001195799.1:c.1354_1356delinsAGAGACA	NP_001182728.1:p.Ser452ArgfsTer?
NM_001195800.1:c.973_975delinsAGAGACA	NP_001182729.1:p.Ser325ArgfsTer?
NM_001195803.1:c.1096_1098delinsAGAGACA	NP_001182732.1:p.Ser366ArgfsTer?
XM_011528010.1:c.1477_1479delinsAGAGACA	XP_011526312.1:p.Ser493ArgfsTer?
XM_011528011.1:c.1096_1098delinsAGAGACA	XP_011526313.1:p.Ser366ArgfsTer?
XR_244074.2:n.1627_1629delinsAGAGACA
XM_011528010.2:c.1477_1479delinsAGAGACA	XP_011526312.1:p.Ser493ArgfsTer?
XR_001753685.2:n.1594_1596delinsAGAGACA
XR_001753686.2:n.1594_1596delinsAGAGACA
NM_000527.5:c.1477_1479delinsAGAGACA MANE Select	NP_000518.1:p.Ser493ArgfsTer?
NM_001195798.2:c.1477_1479delinsAGAGACA	NP_001182727.1:p.Ser493ArgfsTer?
NM_001195799.2:c.1354_1356delinsAGAGACA	NP_001182728.1:p.Ser452ArgfsTer?
NM_001195800.2:c.973_975delinsAGAGACA	NP_001182729.1:p.Ser325ArgfsTer?
NM_001195803.2:c.1096_1098delinsAGAGACA	NP_001182732.1:p.Ser366ArgfsTer?