Canonical Allele Identifier: CA10585686

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252119
• ClinVar RCV Id: RCV000237218
• dbSNP Id: rs879255078
• MyVariant Identifiers: chr19:g.11230858del (hg19) ; chr19:g.11120182del (hg38)
• PubMed: PMID:20828696

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120182del , CM000681.2:g.11120182del	GRCh38
NC_000019.9:g.11230858del , CM000681.1:g.11230858del	GRCh37
NC_000019.8:g.11091858del	NCBI36
NG_009060.1:g.35802del , LRG_274:g.35802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2194del	ENSP00000252444.6:p.Leu732TyrfsTer19
ENST00000559340.2:c.*5del	ENSP00000453696.2:n.*5del
ENST00000560467.2:c.1816del	ENSP00000453513.2:p.Leu606TyrfsTer19
ENST00000558518.6:c.1936del MANE Select	ENSP00000454071.1:p.Leu646TyrfsTer19
ENST00000252444.9:c.2190del
ENST00000455727.6:c.1432del	ENSP00000397829.2:p.Leu478TyrfsTer19
ENST00000535915.5:c.1813del	ENSP00000440520.1:p.Leu605TyrfsTer19
ENST00000545707.5:c.1555del	ENSP00000437639.1:p.Leu519TyrfsTer?
ENST00000557933.5:c.1936del	ENSP00000453557.1:p.Leu646TyrfsTer19
ENST00000558013.5:c.1936del	ENSP00000453346.1:p.Leu646TyrfsTer19
ENST00000558518.5:c.1936del	ENSP00000454071.1:p.Leu646TyrfsTer19
ENST00000559340.1:c.517del
NM_000527.4:c.1936del , LRG_274t1:c.1936del	NP_000518.1:p.Leu646TyrfsTer19
NM_001195798.1:c.1936del	NP_001182727.1:p.Leu646TyrfsTer19
NM_001195799.1:c.1813del	NP_001182728.1:p.Leu605TyrfsTer19
NM_001195800.1:c.1432del	NP_001182729.1:p.Leu478TyrfsTer19
NM_001195803.1:c.1555del	NP_001182732.1:p.Leu519TyrfsTer?
XM_011528010.1:c.1936del	XP_011526312.1:p.Leu646TyrfsTer19
XM_011528011.1:c.1555del	XP_011526313.1:p.Leu519TyrfsTer19
XR_244074.2:n.1946del
XM_011528010.2:c.1936del	XP_011526312.1:p.Leu646TyrfsTer19
XR_001753685.2:n.2053del
XR_001753686.2:n.1913del
NM_000527.5:c.1936del MANE Select	NP_000518.1:p.Leu646TyrfsTer19
NM_001195798.2:c.1936del	NP_001182727.1:p.Leu646TyrfsTer19
NM_001195799.2:c.1813del	NP_001182728.1:p.Leu605TyrfsTer19
NM_001195800.2:c.1432del	NP_001182729.1:p.Leu478TyrfsTer19
NM_001195803.2:c.1555del	NP_001182732.1:p.Leu519TyrfsTer?