Canonical Allele Identifier: CA351758

Gene: LDLR

Linked Data

• ClinVar Variation Id: 222688
• ClinVar RCV Id: RCV000208069 ; RCV000522258 ; RCV000780377 ; RCV002390558 ; RCV003401115
• dbSNP Id: rs869025453
• gnomAD v2: 19-11224327-ACT-A
• gnomAD v3: 19-11113651-ACT-A
• gnomAD v4: 19-11113651-ACT-A
• MyVariant Identifiers: chr19:g.11224330_11224331del (hg19) ; chr19:g.11224328_11224329del (hg19) ; chr19:g.11113654_11113655del (hg38) ; chr19:g.11113653_11113654del (hg38) ; chr19:g.11113652_11113653del (hg38)
• PubMed: PMID:7489239 ; PMID:7866407 ; PMID:8740919 ; PMID:9974426 ; PMID:11810272 ; PMID:20145306 ; PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113654_11113655del , CM000681.2:g.11113654_11113655del	GRCh38
NC_000019.9:g.11224330_11224331del , CM000681.1:g.11224330_11224331del	GRCh37
NC_000019.8:g.11085330_11085331del	NCBI36
NG_009060.1:g.29274_29275del , LRG_274:g.29274_29275del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1736_1737del	ENSP00000252444.6:p.Ser579CysfsTer?
ENST00000559340.2:c.1478_1479del	ENSP00000453696.2:p.Ser493CysfsTer?
ENST00000560467.2:c.1358_1359del	ENSP00000453513.2:p.Ser453CysfsTer?
ENST00000558518.6:c.1478_1479del MANE Select	ENSP00000454071.1:p.Ser493CysfsTer?
ENST00000252444.9:c.1732_1733del
ENST00000455727.6:c.974_975del	ENSP00000397829.2:p.Ser325CysfsTer?
ENST00000535915.5:c.1355_1356del	ENSP00000440520.1:p.Ser452CysfsTer?
ENST00000545707.5:c.1097_1098del	ENSP00000437639.1:p.Ser366CysfsTer?
ENST00000557933.5:c.1478_1479del	ENSP00000453557.1:p.Ser493CysfsTer?
ENST00000558013.5:c.1478_1479del	ENSP00000453346.1:p.Ser493CysfsTer?
ENST00000558518.5:c.1478_1479del	ENSP00000454071.1:p.Ser493CysfsTer?
ENST00000559340.1:c.199_200del
NM_000527.4:c.1478_1479del , LRG_274t1:c.1478_1479del	NP_000518.1:p.Ser493CysfsTer?
NM_001195798.1:c.1478_1479del	NP_001182727.1:p.Ser493CysfsTer?
NM_001195799.1:c.1355_1356del	NP_001182728.1:p.Ser452CysfsTer?
NM_001195800.1:c.974_975del	NP_001182729.1:p.Ser325CysfsTer?
NM_001195803.1:c.1097_1098del	NP_001182732.1:p.Ser366CysfsTer?
XM_011528010.1:c.1478_1479del	XP_011526312.1:p.Ser493CysfsTer?
XM_011528011.1:c.1097_1098del	XP_011526313.1:p.Ser366CysfsTer?
XR_244074.2:n.1628_1629del
XM_011528010.2:c.1478_1479del	XP_011526312.1:p.Ser493CysfsTer?
XR_001753685.2:n.1595_1596del
XR_001753686.2:n.1595_1596del
NM_000527.5:c.1478_1479del MANE Select	NP_000518.1:p.Ser493CysfsTer?
NM_001195798.2:c.1478_1479del	NP_001182727.1:p.Ser493CysfsTer?
NM_001195799.2:c.1355_1356del	NP_001182728.1:p.Ser452CysfsTer?
NM_001195800.2:c.974_975del	NP_001182729.1:p.Ser325CysfsTer?
NM_001195803.2:c.1097_1098del	NP_001182732.1:p.Ser366CysfsTer?