Canonical Allele Identifier: CA10585152

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251476
• ClinVar RCV Id: RCV000238317
• dbSNP Id: rs879254689
• MyVariant Identifiers: chr19:g.11218070_11218077del (hg19) ; chr19:g.11107394_11107401del (hg38)
• PubMed: PMID:15241806

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107394_11107401del , CM000681.2:g.11107394_11107401del	GRCh38
NC_000019.9:g.11218070_11218077del , CM000681.1:g.11218070_11218077del	GRCh37
NC_000019.8:g.11079070_11079077del	NCBI36
NG_009060.1:g.23014_23021del , LRG_274:g.23014_23021del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1078_1085del	ENSP00000252444.6:p.Thr360ArgfsTer24
ENST00000559340.2:c.820_827del	ENSP00000453696.2:p.Thr274ArgfsTer24
ENST00000560467.2:c.820_827del	ENSP00000453513.2:p.Thr274ArgfsTer24
ENST00000558518.6:c.820_827del MANE Select	ENSP00000454071.1:p.Thr274ArgfsTer24
ENST00000252444.9:c.1074_1081del
ENST00000455727.6:c.316_323del	ENSP00000397829.2:p.Thr106ArgfsTer24
ENST00000535915.5:c.697_704del	ENSP00000440520.1:p.Thr233ArgfsTer24
ENST00000545707.5:c.439_446del	ENSP00000437639.1:p.Thr147ArgfsTer24
ENST00000557933.5:c.820_827del	ENSP00000453557.1:p.Thr274ArgfsTer24
ENST00000558013.5:c.820_827del	ENSP00000453346.1:p.Thr274ArgfsTer24
ENST00000558518.5:c.820_827del	ENSP00000454071.1:p.Thr274ArgfsTer24
ENST00000558528.1:n.335_342del
ENST00000560467.1:c.420_427del
NM_000527.4:c.820_827del , LRG_274t1:c.820_827del	NP_000518.1:p.Thr274ArgfsTer24
NM_001195798.1:c.820_827del	NP_001182727.1:p.Thr274ArgfsTer24
NM_001195799.1:c.697_704del	NP_001182728.1:p.Thr233ArgfsTer24
NM_001195800.1:c.316_323del	NP_001182729.1:p.Thr106ArgfsTer24
NM_001195803.1:c.439_446del	NP_001182732.1:p.Thr147ArgfsTer24
XM_011528010.1:c.820_827del	XP_011526312.1:p.Thr274ArgfsTer24
XM_011528011.1:c.439_446del	XP_011526313.1:p.Thr147ArgfsTer24
XR_244074.2:n.970_977del
XM_011528010.2:c.820_827del	XP_011526312.1:p.Thr274ArgfsTer24
XR_001753685.2:n.937_944del
XR_001753686.2:n.937_944del
NM_000527.5:c.820_827del MANE Select	NP_000518.1:p.Thr274ArgfsTer24
NM_001195798.2:c.820_827del	NP_001182727.1:p.Thr274ArgfsTer24
NM_001195799.2:c.697_704del	NP_001182728.1:p.Thr233ArgfsTer24
NM_001195800.2:c.316_323del	NP_001182729.1:p.Thr106ArgfsTer24
NM_001195803.2:c.439_446del	NP_001182732.1:p.Thr147ArgfsTer24