Canonical Allele Identifier: CA10585431

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251818
• ClinVar RCV Id: RCV000237537
• dbSNP Id: rs879254884
• MyVariant Identifiers: chr19:g.11224226_11224227del (hg19) ; chr19:g.11113550_11113551del (hg38)
• PubMed: PMID:10978268 ; PMID:17347910

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113550_11113551del , CM000681.2:g.11113550_11113551del	GRCh38
NC_000019.9:g.11224226_11224227del , CM000681.1:g.11224226_11224227del	GRCh37
NC_000019.8:g.11085226_11085227del	NCBI36
NG_009060.1:g.29170_29171del , LRG_274:g.29170_29171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1632_1633del	ENSP00000252444.6:p.Arg544SerfsTer8
ENST00000559340.2:c.1374_1375del	ENSP00000453696.2:p.Arg458SerfsTer8
ENST00000560467.2:c.1254_1255del	ENSP00000453513.2:p.Arg418SerfsTer8
ENST00000558518.6:c.1374_1375del MANE Select	ENSP00000454071.1:p.Arg458SerfsTer8
ENST00000252444.9:c.1628_1629del
ENST00000455727.6:c.870_871del	ENSP00000397829.2:p.Arg290SerfsTer8
ENST00000535915.5:c.1251_1252del	ENSP00000440520.1:p.Arg417SerfsTer8
ENST00000545707.5:c.993_994del	ENSP00000437639.1:p.Arg331SerfsTer8
ENST00000557933.5:c.1374_1375del	ENSP00000453557.1:p.Arg458SerfsTer8
ENST00000558013.5:c.1374_1375del	ENSP00000453346.1:p.Arg458SerfsTer8
ENST00000558518.5:c.1374_1375del	ENSP00000454071.1:p.Arg458SerfsTer8
ENST00000559340.1:c.95_96del
ENST00000560467.1:c.854_855del
NM_000527.4:c.1374_1375del , LRG_274t1:c.1374_1375del	NP_000518.1:p.Arg458SerfsTer8
NM_001195798.1:c.1374_1375del	NP_001182727.1:p.Arg458SerfsTer8
NM_001195799.1:c.1251_1252del	NP_001182728.1:p.Arg417SerfsTer8
NM_001195800.1:c.870_871del	NP_001182729.1:p.Arg290SerfsTer8
NM_001195803.1:c.993_994del	NP_001182732.1:p.Arg331SerfsTer8
XM_011528010.1:c.1374_1375del	XP_011526312.1:p.Arg458SerfsTer8
XM_011528011.1:c.993_994del	XP_011526313.1:p.Arg331SerfsTer8
XR_244074.2:n.1524_1525del
XM_011528010.2:c.1374_1375del	XP_011526312.1:p.Arg458SerfsTer8
XR_001753685.2:n.1491_1492del
XR_001753686.2:n.1491_1492del
NM_000527.5:c.1374_1375del MANE Select	NP_000518.1:p.Arg458SerfsTer8
NM_001195798.2:c.1374_1375del	NP_001182727.1:p.Arg458SerfsTer8
NM_001195799.2:c.1251_1252del	NP_001182728.1:p.Arg417SerfsTer8
NM_001195800.2:c.870_871del	NP_001182729.1:p.Arg290SerfsTer8
NM_001195803.2:c.993_994del	NP_001182732.1:p.Arg331SerfsTer8