Canonical Allele Identifier: CA2573155732

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1300030
• ClinVar RCV Id: RCV002222065
• dbSNP Id: rs2147223487

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105279_11105285del , CM000681.2:g.11105279_11105285del	GRCh38
NC_000019.9:g.11215955_11215961del , CM000681.1:g.11215955_11215961del	GRCh37
NC_000019.8:g.11076955_11076961del	NCBI36
NG_009060.1:g.20899_20905del , LRG_274:g.20899_20905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.631_637del	ENSP00000252444.6:p.Gln211SerfsTer?
ENST00000559340.2:c.373_379del	ENSP00000453696.2:p.Gln125SerfsTer?
ENST00000560467.2:c.373_379del	ENSP00000453513.2:p.Gln125SerfsTer?
ENST00000558518.6:c.373_379del MANE Select	ENSP00000454071.1:p.Gln125SerfsTer?
ENST00000252444.9:c.627_633del
ENST00000455727.6:c.314-2113_314-2107del	ENSP00000397829.2:n.314-2113_314-2107del
ENST00000535915.5:c.250_256del	ENSP00000440520.1:p.Gln84SerfsTer?
ENST00000545707.5:c.314-1286_314-1280del	ENSP00000437639.1:n.314-1286_314-1280del
ENST00000557933.5:c.373_379del	ENSP00000453557.1:p.Gln125SerfsTer?
ENST00000558013.5:c.373_379del	ENSP00000453346.1:p.Gln125SerfsTer?
ENST00000558518.5:c.373_379del	ENSP00000454071.1:p.Gln125SerfsTer?
NM_000527.4:c.373_379del , LRG_274t1:c.373_379del	NP_000518.1:p.Gln125SerfsTer?
NM_001195798.1:c.373_379del	NP_001182727.1:p.Gln125SerfsTer?
NM_001195799.1:c.250_256del	NP_001182728.1:p.Gln84SerfsTer?
NM_001195800.1:c.314-2113_314-2107del	NP_001182729.1:n.314-2113_314-2107del
NM_001195803.1:c.314-1286_314-1280del	NP_001182732.1:n.314-1286_314-1280del
XM_011528010.1:c.373_379del	XP_011526312.1:p.Gln125SerfsTer?
XM_011528011.1:c.314-1286_314-1280del	XP_011526313.1:n.314-1286_314-1280del
XR_244074.2:n.523_529del
XM_011528010.2:c.373_379del	XP_011526312.1:p.Gln125SerfsTer?
XR_001753685.2:n.490_496del
XR_001753686.2:n.490_496del
NM_000527.5:c.373_379del MANE Select	NP_000518.1:p.Gln125SerfsTer?
NM_001195798.2:c.373_379del	NP_001182727.1:p.Gln125SerfsTer?
NM_001195799.2:c.250_256del	NP_001182728.1:p.Gln84SerfsTer?
NM_001195800.2:c.314-2113_314-2107del	NP_001182729.1:n.314-2113_314-2107del
NM_001195803.2:c.314-1286_314-1280del	NP_001182732.1:n.314-1286_314-1280del