Canonical Allele Identifier: CA10585851

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252321
• ClinVar RCV Id: RCV000237835
• dbSNP Id: rs879255197
• MyVariant Identifiers: chr19:g.11240196_11240211del (hg19) ; chr19:g.11129520_11129535del (hg38)
• PubMed: PMID:26020417
• ERepo: CA10585851/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129520_11129535del , CM000681.2:g.11129520_11129535del	GRCh38
NC_000019.9:g.11240196_11240211del , CM000681.1:g.11240196_11240211del	GRCh37
NC_000019.8:g.11101196_11101211del	NCBI36
NG_009060.1:g.45140_45155del , LRG_274:g.45140_45155del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2655_2670del	ENSP00000252444.6:p.Val886GlyfsTer?
ENST00000559340.2:c.*466_*481del	ENSP00000453696.2:n.*466_*481del
ENST00000560467.2:c.2277_2292del	ENSP00000453513.2:p.Val760GlyfsTer?
ENST00000558518.6:c.2397_2412del MANE Select	ENSP00000454071.1:p.Val800GlyfsTer?
ENST00000252444.9:c.2651_2666del
ENST00000455727.6:c.1893_1908del	ENSP00000397829.2:p.Val632GlyfsTer?
ENST00000535915.5:c.2274_2289del	ENSP00000440520.1:p.Val759GlyfsTer?
ENST00000545707.5:c.1863_1878del	ENSP00000437639.1:p.Val622GlyfsTer?
ENST00000557933.5:c.2459_2474del	ENSP00000453557.1:p.Ser820TrpfsTer12
ENST00000558013.5:c.2397_2412del	ENSP00000453346.1:p.Val800GlyfsTer?
ENST00000558518.5:c.2397_2412del	ENSP00000454071.1:p.Val800GlyfsTer?
ENST00000560628.1:n.108+1866_108+1881del
NM_000527.4:c.2397_2412del , LRG_274t1:c.2397_2412del	NP_000518.1:p.Val800GlyfsTer?
NM_001195798.1:c.2397_2412del	NP_001182727.1:p.Val800GlyfsTer?
NM_001195799.1:c.2274_2289del	NP_001182728.1:p.Val759GlyfsTer?
NM_001195800.1:c.1893_1908del	NP_001182729.1:p.Val632GlyfsTer?
NM_001195803.1:c.1863_1878del	NP_001182732.1:p.Val622GlyfsTer?
XM_011528010.1:c.2319_2334del	XP_011526312.1:p.Val774GlyfsTer?
XM_011528011.1:c.2016_2031del	XP_011526313.1:p.Val673GlyfsTer?
XR_244074.2:n.2407_2422del
XM_011528010.2:c.2319_2334del	XP_011526312.1:p.Val774GlyfsTer?
XR_001753685.2:n.2731_2746del
XR_001753686.2:n.2374_2389del
NM_000527.5:c.2397_2412del MANE Select	NP_000518.1:p.Val800GlyfsTer?
NM_001195798.2:c.2397_2412del	NP_001182727.1:p.Val800GlyfsTer?
NM_001195799.2:c.2274_2289del	NP_001182728.1:p.Val759GlyfsTer?
NM_001195800.2:c.1893_1908del	NP_001182729.1:p.Val632GlyfsTer?
NM_001195803.2:c.1863_1878del	NP_001182732.1:p.Val622GlyfsTer?