Canonical Allele Identifier: CA10585488

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251880
• ClinVar RCV Id: RCV000237323
• dbSNP Id: rs879254927
• MyVariant Identifiers: chr19:g.11224368_11224414del (hg19) ; chr19:g.11113692_11113738del (hg38)
• PubMed: PMID:17347910

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113692_11113738del , CM000681.2:g.11113692_11113738del	GRCh38
NC_000019.9:g.11224368_11224414del , CM000681.1:g.11224368_11224414del	GRCh37
NC_000019.8:g.11085368_11085414del	NCBI36
NG_009060.1:g.29312_29358del , LRG_274:g.29312_29358del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1774_1820del	ENSP00000252444.6:p.Val592HisfsTer14
ENST00000559340.2:c.1516_1562del	ENSP00000453696.2:p.Val506HisfsTer14
ENST00000560467.2:c.1396_1442del	ENSP00000453513.2:p.Val466HisfsTer14
ENST00000558518.6:c.1516_1562del MANE Select	ENSP00000454071.1:p.Val506HisfsTer14
ENST00000252444.9:c.1770_1816del
ENST00000455727.6:c.1012_1058del	ENSP00000397829.2:p.Val338HisfsTer14
ENST00000535915.5:c.1393_1439del	ENSP00000440520.1:p.Val465HisfsTer14
ENST00000545707.5:c.1135_1181del	ENSP00000437639.1:p.Val379HisfsTer14
ENST00000557933.5:c.1516_1562del	ENSP00000453557.1:p.Val506HisfsTer14
ENST00000558013.5:c.1516_1562del	ENSP00000453346.1:p.Val506HisfsTer14
ENST00000558518.5:c.1516_1562del	ENSP00000454071.1:p.Val506HisfsTer14
ENST00000559340.1:c.237_283del
NM_000527.4:c.1516_1562del , LRG_274t1:c.1516_1562del	NP_000518.1:p.Val506HisfsTer14
NM_001195798.1:c.1516_1562del	NP_001182727.1:p.Val506HisfsTer14
NM_001195799.1:c.1393_1439del	NP_001182728.1:p.Val465HisfsTer14
NM_001195800.1:c.1012_1058del	NP_001182729.1:p.Val338HisfsTer14
NM_001195803.1:c.1135_1181del	NP_001182732.1:p.Val379HisfsTer14
XM_011528010.1:c.1516_1562del	XP_011526312.1:p.Val506HisfsTer14
XM_011528011.1:c.1135_1181del	XP_011526313.1:p.Val379HisfsTer14
XR_244074.2:n.1666_1712del
XM_011528010.2:c.1516_1562del	XP_011526312.1:p.Val506HisfsTer14
XR_001753685.2:n.1633_1679del
XR_001753686.2:n.1633_1679del
NM_000527.5:c.1516_1562del MANE Select	NP_000518.1:p.Val506HisfsTer14
NM_001195798.2:c.1516_1562del	NP_001182727.1:p.Val506HisfsTer14
NM_001195799.2:c.1393_1439del	NP_001182728.1:p.Val465HisfsTer14
NM_001195800.2:c.1012_1058del	NP_001182729.1:p.Val338HisfsTer14
NM_001195803.2:c.1135_1181del	NP_001182732.1:p.Val379HisfsTer14