Canonical Allele Identifier: CA10585449

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251839
• ClinVar RCV Id: RCV000237829
• dbSNP Id: rs879254899
• MyVariant Identifiers: chr19:g.11224286del (hg19) ; chr19:g.11113610del (hg38)
• PubMed: PMID:15241806

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113610del , CM000681.2:g.11113610del	GRCh38
NC_000019.9:g.11224286del , CM000681.1:g.11224286del	GRCh37
NC_000019.8:g.11085286del	NCBI36
NG_009060.1:g.29230del , LRG_274:g.29230del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1692del	ENSP00000252444.6:p.Leu565TrpfsTer28
ENST00000559340.2:c.1434del	ENSP00000453696.2:p.Leu479TrpfsTer28
ENST00000560467.2:c.1314del	ENSP00000453513.2:p.Leu439TrpfsTer28
ENST00000558518.6:c.1434del MANE Select	ENSP00000454071.1:p.Leu479TrpfsTer28
ENST00000252444.9:c.1688del
ENST00000455727.6:c.930del	ENSP00000397829.2:p.Leu311TrpfsTer28
ENST00000535915.5:c.1311del	ENSP00000440520.1:p.Leu438TrpfsTer28
ENST00000545707.5:c.1053del	ENSP00000437639.1:p.Leu352TrpfsTer28
ENST00000557933.5:c.1434del	ENSP00000453557.1:p.Leu479TrpfsTer28
ENST00000558013.5:c.1434del	ENSP00000453346.1:p.Leu479TrpfsTer28
ENST00000558518.5:c.1434del	ENSP00000454071.1:p.Leu479TrpfsTer28
ENST00000559340.1:c.155del
ENST00000560467.1:c.914del
NM_000527.4:c.1434del , LRG_274t1:c.1434del	NP_000518.1:p.Leu479TrpfsTer28
NM_001195798.1:c.1434del	NP_001182727.1:p.Leu479TrpfsTer28
NM_001195799.1:c.1311del	NP_001182728.1:p.Leu438TrpfsTer28
NM_001195800.1:c.930del	NP_001182729.1:p.Leu311TrpfsTer28
NM_001195803.1:c.1053del	NP_001182732.1:p.Leu352TrpfsTer28
XM_011528010.1:c.1434del	XP_011526312.1:p.Leu479TrpfsTer28
XM_011528011.1:c.1053del	XP_011526313.1:p.Leu352TrpfsTer28
XR_244074.2:n.1584del
XM_011528010.2:c.1434del	XP_011526312.1:p.Leu479TrpfsTer28
XR_001753685.2:n.1551del
XR_001753686.2:n.1551del
NM_000527.5:c.1434del MANE Select	NP_000518.1:p.Leu479TrpfsTer28
NM_001195798.2:c.1434del	NP_001182727.1:p.Leu479TrpfsTer28
NM_001195799.2:c.1311del	NP_001182728.1:p.Leu438TrpfsTer28
NM_001195800.2:c.930del	NP_001182729.1:p.Leu311TrpfsTer28
NM_001195803.2:c.1053del	NP_001182732.1:p.Leu352TrpfsTer28