Canonical Allele Identifier: CA10585667

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252097
• ClinVar RCV Id: RCV002411102 ; RCV003477856
• dbSNP Id: rs879255062
• MyVariant Identifiers: chr19:g.11230793_11230795del (hg19) ; chr19:g.11120117_11120119del (hg38)
• PubMed: PMID:11668640 ; PMID:12417285 ; PMID:15199436 ; PMID:19318025 ; PMID:20145306 ; PMID:22881376 ; PMID:23375686 ; PMID:25378237

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120117_11120119del , CM000681.2:g.11120117_11120119del	GRCh38
NC_000019.9:g.11230793_11230795del , CM000681.1:g.11230793_11230795del	GRCh37
NC_000019.8:g.11091793_11091795del	NCBI36
NG_009060.1:g.35737_35739del , LRG_274:g.35737_35739del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2129_2131del	ENSP00000252444.6:p.Ile710del
ENST00000559340.2:c.1731_1733del	ENSP00000453696.2:p.His577del
ENST00000560467.2:c.1751_1753del	ENSP00000453513.2:p.Ile584del
ENST00000558518.6:c.1871_1873del MANE Select	ENSP00000454071.1:p.Ile624del
ENST00000252444.9:c.2125_2127del
ENST00000455727.6:c.1367_1369del	ENSP00000397829.2:p.Ile456del
ENST00000535915.5:c.1748_1750del	ENSP00000440520.1:p.Ile583del
ENST00000545707.5:c.1490_1492del	ENSP00000437639.1:p.Ile497del
ENST00000557933.5:c.1871_1873del	ENSP00000453557.1:p.Ile624del
ENST00000558013.5:c.1871_1873del	ENSP00000453346.1:p.Ile624del
ENST00000558518.5:c.1871_1873del	ENSP00000454071.1:p.Ile624del
ENST00000559340.1:c.452_454del
NM_000527.4:c.1871_1873del , LRG_274t1:c.1871_1873del	NP_000518.1:p.Ile624del
NM_001195798.1:c.1871_1873del	NP_001182727.1:p.Ile624del
NM_001195799.1:c.1748_1750del	NP_001182728.1:p.Ile583del
NM_001195800.1:c.1367_1369del	NP_001182729.1:p.Ile456del
NM_001195803.1:c.1490_1492del	NP_001182732.1:p.Ile497del
XM_011528010.1:c.1871_1873del	XP_011526312.1:p.Ile624del
XM_011528011.1:c.1490_1492del	XP_011526313.1:p.Ile497del
XR_244074.2:n.1881_1883del
XM_011528010.2:c.1871_1873del	XP_011526312.1:p.Ile624del
XR_001753685.2:n.1988_1990del
XR_001753686.2:n.1848_1850del
NM_000527.5:c.1871_1873del MANE Select	NP_000518.1:p.Ile624del
NM_001195798.2:c.1871_1873del	NP_001182727.1:p.Ile624del
NM_001195799.2:c.1748_1750del	NP_001182728.1:p.Ile583del
NM_001195800.2:c.1367_1369del	NP_001182729.1:p.Ile456del
NM_001195803.2:c.1490_1492del	NP_001182732.1:p.Ile497del