Canonical Allele Identifier: CA10585666

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252095
• ClinVar RCV Id: RCV000237961 ; RCV001699087
• dbSNP Id: rs879255061
• gnomAD v4: 19-11120110-GAT-G
• MyVariant Identifiers: chr19:g.11230789_11230790del (hg19) ; chr19:g.11120113_11120114del (hg38)
• PubMed: PMID:11810272

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120113_11120114del , CM000681.2:g.11120113_11120114del	GRCh38
NC_000019.9:g.11230789_11230790del , CM000681.1:g.11230789_11230790del	GRCh37
NC_000019.8:g.11091789_11091790del	NCBI36
NG_009060.1:g.35733_35734del , LRG_274:g.35733_35734del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2125_2126del	ENSP00000252444.6:p.Ile709HisfsTer21
ENST00000559340.2:c.1727_1728del	ENSP00000453696.2:p.Tyr576SerfsTer?
ENST00000560467.2:c.1747_1748del	ENSP00000453513.2:p.Ile583HisfsTer21
ENST00000558518.6:c.1867_1868del MANE Select	ENSP00000454071.1:p.Ile623HisfsTer21
ENST00000252444.9:c.2121_2122del
ENST00000455727.6:c.1363_1364del	ENSP00000397829.2:p.Ile455HisfsTer21
ENST00000535915.5:c.1744_1745del	ENSP00000440520.1:p.Ile582HisfsTer21
ENST00000545707.5:c.1486_1487del	ENSP00000437639.1:p.Ile496HisfsTer21
ENST00000557933.5:c.1867_1868del	ENSP00000453557.1:p.Ile623HisfsTer21
ENST00000558013.5:c.1867_1868del	ENSP00000453346.1:p.Ile623HisfsTer21
ENST00000558518.5:c.1867_1868del	ENSP00000454071.1:p.Ile623HisfsTer21
ENST00000559340.1:c.448_449del
NM_000527.4:c.1867_1868del , LRG_274t1:c.1867_1868del	NP_000518.1:p.Ile623HisfsTer21
NM_001195798.1:c.1867_1868del	NP_001182727.1:p.Ile623HisfsTer21
NM_001195799.1:c.1744_1745del	NP_001182728.1:p.Ile582HisfsTer21
NM_001195800.1:c.1363_1364del	NP_001182729.1:p.Ile455HisfsTer21
NM_001195803.1:c.1486_1487del	NP_001182732.1:p.Ile496HisfsTer21
XM_011528010.1:c.1867_1868del	XP_011526312.1:p.Ile623HisfsTer21
XM_011528011.1:c.1486_1487del	XP_011526313.1:p.Ile496HisfsTer21
XR_244074.2:n.1877_1878del
XM_011528010.2:c.1867_1868del	XP_011526312.1:p.Ile623HisfsTer21
XR_001753685.2:n.1984_1985del
XR_001753686.2:n.1844_1845del
NM_000527.5:c.1867_1868del MANE Select	NP_000518.1:p.Ile623HisfsTer21
NM_001195798.2:c.1867_1868del	NP_001182727.1:p.Ile623HisfsTer21
NM_001195799.2:c.1744_1745del	NP_001182728.1:p.Ile582HisfsTer21
NM_001195800.2:c.1363_1364del	NP_001182729.1:p.Ile455HisfsTer21
NM_001195803.2:c.1486_1487del	NP_001182732.1:p.Ile496HisfsTer21