Canonical Allele Identifier: CA10585716

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252157
• ClinVar RCV Id: RCV000238208
• dbSNP Id: rs879255104
• MyVariant Identifiers: chr19:g.11231054_11231070del (hg19) ; chr19:g.11120378_11120394del (hg38)
• PubMed: PMID:21418584

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120378_11120394del , CM000681.2:g.11120378_11120394del	GRCh38
NC_000019.9:g.11231054_11231070del , CM000681.1:g.11231054_11231070del	GRCh37
NC_000019.8:g.11092054_11092070del	NCBI36
NG_009060.1:g.35998_36014del , LRG_274:g.35998_36014del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2254_2270del	ENSP00000252444.6:p.Trp752ProfsTer?
ENST00000559340.2:c.*65_*81del	ENSP00000453696.2:n.*65_*81del
ENST00000560467.2:c.1876_1892del	ENSP00000453513.2:p.Trp626ProfsTer?
ENST00000558518.6:c.1996_2012del MANE Select	ENSP00000454071.1:p.Trp666ProfsTer?
ENST00000252444.9:c.2250_2266del
ENST00000455727.6:c.1492_1508del	ENSP00000397829.2:p.Trp498ProfsTer?
ENST00000535915.5:c.1873_1889del	ENSP00000440520.1:p.Trp625ProfsTer?
ENST00000545707.5:c.1606+145_1606+161del	ENSP00000437639.1:n.1606+145_1606+161del
ENST00000557933.5:c.1996_2012del	ENSP00000453557.1:p.Trp666ProfsTer?
ENST00000558013.5:c.1996_2012del	ENSP00000453346.1:p.Trp666ProfsTer?
ENST00000558518.5:c.1996_2012del	ENSP00000454071.1:p.Trp666ProfsTer?
ENST00000559340.1:c.577_593del
NM_000527.4:c.1996_2012del , LRG_274t1:c.1996_2012del	NP_000518.1:p.Trp666ProfsTer?
NM_001195798.1:c.1996_2012del	NP_001182727.1:p.Trp666ProfsTer?
NM_001195799.1:c.1873_1889del	NP_001182728.1:p.Trp625ProfsTer?
NM_001195800.1:c.1492_1508del	NP_001182729.1:p.Trp498ProfsTer?
NM_001195803.1:c.1606+145_1606+161del	NP_001182732.1:n.1606+145_1606+161del
XM_011528010.1:c.1996_2012del	XP_011526312.1:p.Trp666ProfsTer?
XM_011528011.1:c.1615_1631del	XP_011526313.1:p.Trp539ProfsTer?
XR_244074.2:n.2006_2022del
XM_011528010.2:c.1996_2012del	XP_011526312.1:p.Trp666ProfsTer?
XR_001753685.2:n.2113_2129del
XR_001753686.2:n.1973_1989del
NM_000527.5:c.1996_2012del MANE Select	NP_000518.1:p.Trp666ProfsTer?
NM_001195798.2:c.1996_2012del	NP_001182727.1:p.Trp666ProfsTer?
NM_001195799.2:c.1873_1889del	NP_001182728.1:p.Trp625ProfsTer?
NM_001195800.2:c.1492_1508del	NP_001182729.1:p.Trp498ProfsTer?
NM_001195803.2:c.1606+145_1606+161del	NP_001182732.1:n.1606+145_1606+161del