Canonical Allele Identifier: CA2573156035

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1415851
• ClinVar RCV Id: RCV001933286
• dbSNP Id: rs2147266595

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120509_11120510delinsCT , CM000681.2:g.11120509_11120510delinsCT	GRCh38
NC_000019.9:g.11231185_11231186delinsCT , CM000681.1:g.11231185_11231186delinsCT	GRCh37
NC_000019.8:g.11092185_11092186delinsCT	NCBI36
NG_009060.1:g.36129_36130delinsCT , LRG_274:g.36129_36130delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2385_2386delinsCT	ENSP00000252444.6:p.Arg795_Ser796delinsSerCys
ENST00000559340.2:c.*196_*197delinsCT	ENSP00000453696.2:n.*196_*197delinsCT
ENST00000560467.2:c.2007_2008delinsCT	ENSP00000453513.2:p.Arg669_Ser670delinsSerCys
ENST00000558518.6:c.2127_2128delinsCT MANE Select	ENSP00000454071.1:p.Arg709_Ser710delinsSerCys
ENST00000252444.9:c.2381_2382delinsCT
ENST00000455727.6:c.1623_1624delinsCT	ENSP00000397829.2:p.Arg541_Ser542delinsSerCys
ENST00000535915.5:c.2004_2005delinsCT	ENSP00000440520.1:p.Arg668_Ser669delinsSerCys
ENST00000545707.5:c.1606+276_1606+277delinsCT	ENSP00000437639.1:n.1606+276_1606+277delinsCT
ENST00000557933.5:c.2127_2128delinsCT	ENSP00000453557.1:p.Arg709_Ser710delinsSerCys
ENST00000558013.5:c.2127_2128delinsCT	ENSP00000453346.1:p.Arg709_Ser710delinsSerCys
ENST00000558518.5:c.2127_2128delinsCT	ENSP00000454071.1:p.Arg709_Ser710delinsSerCys
NM_000527.4:c.2127_2128delinsCT , LRG_274t1:c.2127_2128delinsCT	NP_000518.1:p.Arg709_Ser710delinsSerCys
NM_001195798.1:c.2127_2128delinsCT	NP_001182727.1:p.Arg709_Ser710delinsSerCys
NM_001195799.1:c.2004_2005delinsCT	NP_001182728.1:p.Arg668_Ser669delinsSerCys
NM_001195800.1:c.1623_1624delinsCT	NP_001182729.1:p.Arg541_Ser542delinsSerCys
NM_001195803.1:c.1606+276_1606+277delinsCT	NP_001182732.1:n.1606+276_1606+277delinsCT
XM_011528010.1:c.2127_2128delinsCT	XP_011526312.1:p.Arg709_Ser710delinsSerCys
XM_011528011.1:c.1746_1747delinsCT	XP_011526313.1:p.Arg582_Ser583delinsSerCys
XR_244074.2:n.2137_2138delinsCT
XM_011528010.2:c.2127_2128delinsCT	XP_011526312.1:p.Arg709_Ser710delinsSerCys
XR_001753685.2:n.2244_2245delinsCT
XR_001753686.2:n.2104_2105delinsCT
NM_000527.5:c.2127_2128delinsCT MANE Select	NP_000518.1:p.Arg709_Ser710delinsSerCys
NM_001195798.2:c.2127_2128delinsCT	NP_001182727.1:p.Arg709_Ser710delinsSerCys
NM_001195799.2:c.2004_2005delinsCT	NP_001182728.1:p.Arg668_Ser669delinsSerCys
NM_001195800.2:c.1623_1624delinsCT	NP_001182729.1:p.Arg541_Ser542delinsSerCys
NM_001195803.2:c.1606+276_1606+277delinsCT	NP_001182732.1:n.1606+276_1606+277delinsCT