Canonical Allele Identifier: CA10585610

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252028
• ClinVar RCV Id: RCV000238109 ; RCV001228331 ; RCV002411090 ; RCV003456386
• dbSNP Id: rs879255020
• gnomAD v4: 19-11116935-CCGGAAGA-C
• MyVariant Identifiers: chr19:g.11227613_11227619del (hg19) ; chr19:g.11116937_11116943del (hg38)
• PubMed: PMID:7489239 ; PMID:20145306

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116937_11116943del , CM000681.2:g.11116937_11116943del	GRCh38
NC_000019.9:g.11227613_11227619del , CM000681.1:g.11227613_11227619del	GRCh37
NC_000019.8:g.11088613_11088619del	NCBI36
NG_009060.1:g.32557_32563del , LRG_274:g.32557_32563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2042_2048del	ENSP00000252444.6:p.Arg681ProfsTer?
ENST00000559340.2:c.1705+725_1705+731del	ENSP00000453696.2:n.1705+725_1705+731del
ENST00000560467.2:c.1664_1670del	ENSP00000453513.2:p.Arg555ProfsTer?
ENST00000558518.6:c.1784_1790del MANE Select	ENSP00000454071.1:p.Arg595ProfsTer?
ENST00000252444.9:c.2038_2044del
ENST00000455727.6:c.1280_1286del	ENSP00000397829.2:p.Arg427ProfsTer?
ENST00000535915.5:c.1661_1667del	ENSP00000440520.1:p.Arg554ProfsTer?
ENST00000545707.5:c.1403_1409del	ENSP00000437639.1:p.Arg468ProfsTer?
ENST00000557933.5:c.1784_1790del	ENSP00000453557.1:p.Arg595ProfsTer?
ENST00000558013.5:c.1784_1790del	ENSP00000453346.1:p.Arg595ProfsTer?
ENST00000558518.5:c.1784_1790del	ENSP00000454071.1:p.Arg595ProfsTer?
ENST00000559340.1:c.426+725_426+731del
NM_000527.4:c.1784_1790del , LRG_274t1:c.1784_1790del	NP_000518.1:p.Arg595ProfsTer?
NM_001195798.1:c.1784_1790del	NP_001182727.1:p.Arg595ProfsTer?
NM_001195799.1:c.1661_1667del	NP_001182728.1:p.Arg554ProfsTer?
NM_001195800.1:c.1280_1286del	NP_001182729.1:p.Arg427ProfsTer?
NM_001195803.1:c.1403_1409del	NP_001182732.1:p.Arg468ProfsTer?
XM_011528010.1:c.1784_1790del	XP_011526312.1:p.Arg595ProfsTer?
XM_011528011.1:c.1403_1409del	XP_011526313.1:p.Arg468ProfsTer?
XR_244074.2:n.1855+725_1855+731del
XM_011528010.2:c.1784_1790del	XP_011526312.1:p.Arg595ProfsTer?
XR_001753685.2:n.1901_1907del
XR_001753686.2:n.1822+725_1822+731del
NM_000527.5:c.1784_1790del MANE Select	NP_000518.1:p.Arg595ProfsTer?
NM_001195798.2:c.1784_1790del	NP_001182727.1:p.Arg595ProfsTer?
NM_001195799.2:c.1661_1667del	NP_001182728.1:p.Arg554ProfsTer?
NM_001195800.2:c.1280_1286del	NP_001182729.1:p.Arg427ProfsTer?
NM_001195803.2:c.1403_1409del	NP_001182732.1:p.Arg468ProfsTer?