Canonical Allele Identifier: CA2580096489

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2125438
• ClinVar RCV Id: RCV003043619

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105576_11105578del , CM000681.2:g.11105576_11105578del	GRCh38
NC_000019.9:g.11216252_11216254del , CM000681.1:g.11216252_11216254del	GRCh37
NC_000019.8:g.11077252_11077254del	NCBI36
NG_009060.1:g.21196_21198del , LRG_274:g.21196_21198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.928_930del	ENSP00000252444.6:p.Asp310del
ENST00000559340.2:c.670_672del	ENSP00000453696.2:p.Asp224del
ENST00000560467.2:c.670_672del	ENSP00000453513.2:p.Asp224del
ENST00000558518.6:c.670_672del MANE Select	ENSP00000454071.1:p.Asp224del
ENST00000252444.9:c.924_926del
ENST00000455727.6:c.314-1816_314-1814del	ENSP00000397829.2:n.314-1816_314-1814del
ENST00000535915.5:c.547_549del	ENSP00000440520.1:p.Asp183del
ENST00000545707.5:c.314-989_314-987del	ENSP00000437639.1:n.314-989_314-987del
ENST00000557933.5:c.670_672del	ENSP00000453557.1:p.Asp224del
ENST00000558013.5:c.670_672del	ENSP00000453346.1:p.Asp224del
ENST00000558518.5:c.670_672del	ENSP00000454071.1:p.Asp224del
ENST00000560467.1:c.270_272del
NM_000527.4:c.670_672del , LRG_274t1:c.670_672del	NP_000518.1:p.Asp224del
NM_001195798.1:c.670_672del	NP_001182727.1:p.Asp224del
NM_001195799.1:c.547_549del	NP_001182728.1:p.Asp183del
NM_001195800.1:c.314-1816_314-1814del	NP_001182729.1:n.314-1816_314-1814del
NM_001195803.1:c.314-989_314-987del	NP_001182732.1:n.314-989_314-987del
XM_011528010.1:c.670_672del	XP_011526312.1:p.Asp224del
XM_011528011.1:c.314-989_314-987del	XP_011526313.1:n.314-989_314-987del
XR_244074.2:n.820_822del
XM_011528010.2:c.670_672del	XP_011526312.1:p.Asp224del
XR_001753685.2:n.787_789del
XR_001753686.2:n.787_789del
NM_000527.5:c.670_672del MANE Select	NP_000518.1:p.Asp224del
NM_001195798.2:c.670_672del	NP_001182727.1:p.Asp224del
NM_001195799.2:c.547_549del	NP_001182728.1:p.Asp183del
NM_001195800.2:c.314-1816_314-1814del	NP_001182729.1:n.314-1816_314-1814del
NM_001195803.2:c.314-989_314-987del	NP_001182732.1:n.314-989_314-987del