Canonical Allele Identifier: CA658656796

Gene: LDLR

Linked Data

• ClinVar Variation Id: 453194
• ClinVar RCV Id: RCV000519981
• dbSNP Id: rs1555803913

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107506_11107513delinsGAGAGTGG , CM000681.2:g.11107506_11107513delinsGAGAGTGG	GRCh38
NC_000019.9:g.11218182_11218189delinsGAGAGTGG , CM000681.1:g.11218182_11218189delinsGAGAGTGG	GRCh37
NC_000019.8:g.11079182_11079189delinsGAGAGTGG	NCBI36
NG_009060.1:g.23126_23133delinsGAGAGTGG , LRG_274:g.23126_23133delinsGAGAGTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1190_1197delinsGAGAGTGG	ENSP00000252444.6:p.Lys397_Cys399delinsArgGluTrp
ENST00000559340.2:c.932_939delinsGAGAGTGG	ENSP00000453696.2:p.Lys311_Cys313delinsArgGluTrp
ENST00000560467.2:c.932_939delinsGAGAGTGG	ENSP00000453513.2:p.Lys311_Cys313delinsArgGluTrp
ENST00000558518.6:c.932_939delinsGAGAGTGG MANE Select	ENSP00000454071.1:p.Lys311_Cys313delinsArgGluTrp
ENST00000252444.9:c.1186_1193delinsGAGAGTGG
ENST00000455727.6:c.428_435delinsGAGAGTGG	ENSP00000397829.2:p.Lys143_Cys145delinsArgGluTrp
ENST00000535915.5:c.809_816delinsGAGAGTGG	ENSP00000440520.1:p.Lys270_Cys272delinsArgGluTrp
ENST00000545707.5:c.551_558delinsGAGAGTGG	ENSP00000437639.1:p.Lys184_Cys186delinsArgGluTrp
ENST00000557933.5:c.932_939delinsGAGAGTGG	ENSP00000453557.1:p.Lys311_Cys313delinsArgGluTrp
ENST00000558013.5:c.932_939delinsGAGAGTGG	ENSP00000453346.1:p.Lys311_Cys313delinsArgGluTrp
ENST00000558518.5:c.932_939delinsGAGAGTGG	ENSP00000454071.1:p.Lys311_Cys313delinsArgGluTrp
ENST00000558528.1:n.447_454delinsGAGAGTGG
ENST00000560467.1:c.532_539delinsGAGAGTGG
NM_000527.4:c.932_939delinsGAGAGTGG , LRG_274t1:c.932_939delinsGAGAGTGG	NP_000518.1:p.Lys311_Cys313delinsArgGluTrp
NM_001195798.1:c.932_939delinsGAGAGTGG	NP_001182727.1:p.Lys311_Cys313delinsArgGluTrp
NM_001195799.1:c.809_816delinsGAGAGTGG	NP_001182728.1:p.Lys270_Cys272delinsArgGluTrp
NM_001195800.1:c.428_435delinsGAGAGTGG	NP_001182729.1:p.Lys143_Cys145delinsArgGluTrp
NM_001195803.1:c.551_558delinsGAGAGTGG	NP_001182732.1:p.Lys184_Cys186delinsArgGluTrp
XM_011528010.1:c.932_939delinsGAGAGTGG	XP_011526312.1:p.Lys311_Cys313delinsArgGluTrp
XM_011528011.1:c.551_558delinsGAGAGTGG	XP_011526313.1:p.Lys184_Cys186delinsArgGluTrp
XR_244074.2:n.1082_1089delinsGAGAGTGG
XM_011528010.2:c.932_939delinsGAGAGTGG	XP_011526312.1:p.Lys311_Cys313delinsArgGluTrp
XR_001753685.2:n.1049_1056delinsGAGAGTGG
XR_001753686.2:n.1049_1056delinsGAGAGTGG
NM_000527.5:c.932_939delinsGAGAGTGG MANE Select	NP_000518.1:p.Lys311_Cys313delinsArgGluTrp
NM_001195798.2:c.932_939delinsGAGAGTGG	NP_001182727.1:p.Lys311_Cys313delinsArgGluTrp
NM_001195799.2:c.809_816delinsGAGAGTGG	NP_001182728.1:p.Lys270_Cys272delinsArgGluTrp
NM_001195800.2:c.428_435delinsGAGAGTGG	NP_001182729.1:p.Lys143_Cys145delinsArgGluTrp
NM_001195803.2:c.551_558delinsGAGAGTGG	NP_001182732.1:p.Lys184_Cys186delinsArgGluTrp