Canonical Allele Identifier: CA10585415

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251799
• ClinVar RCV Id: RCV000237634
• dbSNP Id: rs879254872
• MyVariant Identifiers: chr19:g.11224110del (hg19) ; chr19:g.11113434del (hg38)
• PubMed: PMID:20809525

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113434del , CM000681.2:g.11113434del	GRCh38
NC_000019.9:g.11224110del , CM000681.1:g.11224110del	GRCh37
NC_000019.8:g.11085110del	NCBI36
NG_009060.1:g.29054del , LRG_274:g.29054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1601del	ENSP00000252444.6:p.Gln534ArgfsTer3
ENST00000559340.2:c.1343del	ENSP00000453696.2:p.Gln448ArgfsTer3
ENST00000560467.2:c.1223del	ENSP00000453513.2:p.Gln408ArgfsTer3
ENST00000558518.6:c.1343del MANE Select	ENSP00000454071.1:p.Gln448ArgfsTer3
ENST00000252444.9:c.1597del
ENST00000455727.6:c.839del	ENSP00000397829.2:p.Gln280ArgfsTer3
ENST00000535915.5:c.1220del	ENSP00000440520.1:p.Gln407ArgfsTer3
ENST00000545707.5:c.962del	ENSP00000437639.1:p.Gln321ArgfsTer3
ENST00000557933.5:c.1343del	ENSP00000453557.1:p.Gln448ArgfsTer3
ENST00000558013.5:c.1343del	ENSP00000453346.1:p.Gln448ArgfsTer3
ENST00000558518.5:c.1343del	ENSP00000454071.1:p.Gln448ArgfsTer3
ENST00000559340.1:c.64del
ENST00000560173.1:n.342del
ENST00000560467.1:c.823del
NM_000527.4:c.1343del , LRG_274t1:c.1343del	NP_000518.1:p.Gln448ArgfsTer3
NM_001195798.1:c.1343del	NP_001182727.1:p.Gln448ArgfsTer3
NM_001195799.1:c.1220del	NP_001182728.1:p.Gln407ArgfsTer3
NM_001195800.1:c.839del	NP_001182729.1:p.Gln280ArgfsTer3
NM_001195803.1:c.962del	NP_001182732.1:p.Gln321ArgfsTer3
XM_011528010.1:c.1343del	XP_011526312.1:p.Gln448ArgfsTer3
XM_011528011.1:c.962del	XP_011526313.1:p.Gln321ArgfsTer3
XR_244074.2:n.1493del
XM_011528010.2:c.1343del	XP_011526312.1:p.Gln448ArgfsTer3
XR_001753685.2:n.1460del
XR_001753686.2:n.1460del
NM_000527.5:c.1343del MANE Select	NP_000518.1:p.Gln448ArgfsTer3
NM_001195798.2:c.1343del	NP_001182727.1:p.Gln448ArgfsTer3
NM_001195799.2:c.1220del	NP_001182728.1:p.Gln407ArgfsTer3
NM_001195800.2:c.839del	NP_001182729.1:p.Gln280ArgfsTer3
NM_001195803.2:c.962del	NP_001182732.1:p.Gln321ArgfsTer3