Canonical Allele Identifier: CA10585337

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251698
• ClinVar RCV Id: RCV000238182
• dbSNP Id: rs879254815
• MyVariant Identifiers: chr19:g.11222307del (hg19) ; chr19:g.11111631del (hg38)
• PubMed: PMID:17765246

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111631del , CM000681.2:g.11111631del	GRCh38
NC_000019.9:g.11222307del , CM000681.1:g.11222307del	GRCh37
NC_000019.8:g.11083307del	NCBI36
NG_009060.1:g.27251del , LRG_274:g.27251del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1436del	ENSP00000252444.6:p.Lys479ArgfsTer20
ENST00000559340.2:c.1178del	ENSP00000453696.2:p.Lys393ArgfsTer20
ENST00000560467.2:c.1058del	ENSP00000453513.2:p.Lys353ArgfsTer20
ENST00000558518.6:c.1178del MANE Select	ENSP00000454071.1:p.Lys393ArgfsTer20
ENST00000252444.9:c.1432del
ENST00000455727.6:c.674del	ENSP00000397829.2:p.Lys225ArgfsTer20
ENST00000535915.5:c.1055del	ENSP00000440520.1:p.Lys352ArgfsTer20
ENST00000545707.5:c.797del	ENSP00000437639.1:p.Lys266ArgfsTer20
ENST00000557933.5:c.1178del	ENSP00000453557.1:p.Lys393ArgfsTer20
ENST00000558013.5:c.1178del	ENSP00000453346.1:p.Lys393ArgfsTer20
ENST00000558518.5:c.1178del	ENSP00000454071.1:p.Lys393ArgfsTer20
ENST00000560173.1:n.177del
ENST00000560467.1:c.658del
NM_000527.4:c.1178del , LRG_274t1:c.1178del	NP_000518.1:p.Lys393ArgfsTer20
NM_001195798.1:c.1178del	NP_001182727.1:p.Lys393ArgfsTer20
NM_001195799.1:c.1055del	NP_001182728.1:p.Lys352ArgfsTer20
NM_001195800.1:c.674del	NP_001182729.1:p.Lys225ArgfsTer20
NM_001195803.1:c.797del	NP_001182732.1:p.Lys266ArgfsTer20
XM_011528010.1:c.1178del	XP_011526312.1:p.Lys393ArgfsTer20
XM_011528011.1:c.797del	XP_011526313.1:p.Lys266ArgfsTer20
XR_244074.2:n.1328del
XM_011528010.2:c.1178del	XP_011526312.1:p.Lys393ArgfsTer20
XR_001753685.2:n.1295del
XR_001753686.2:n.1295del
NM_000527.5:c.1178del MANE Select	NP_000518.1:p.Lys393ArgfsTer20
NM_001195798.2:c.1178del	NP_001182727.1:p.Lys393ArgfsTer20
NM_001195799.2:c.1055del	NP_001182728.1:p.Lys352ArgfsTer20
NM_001195800.2:c.674del	NP_001182729.1:p.Lys225ArgfsTer20
NM_001195803.2:c.797del	NP_001182732.1:p.Lys266ArgfsTer20