Canonical Allele Identifier: CA10585098

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251417
• ClinVar RCV Id: RCV000238319
• dbSNP Id: rs1555803644
• MyVariant Identifiers: chr19:g.11217251_11217337del (hg19) ; chr19:g.11106575_11106661del (hg38)
• PubMed: PMID:8004803

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106575_11106661del , CM000681.2:g.11106575_11106661del	GRCh38
NC_000019.9:g.11217251_11217337del , CM000681.1:g.11217251_11217337del	GRCh37
NC_000019.8:g.11078251_11078337del	NCBI36
NG_009060.1:g.22195_22281del , LRG_274:g.22195_22281del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.963_1049del	ENSP00000252444.6:p.Cys322_Met350del
ENST00000559340.2:c.705_791del	ENSP00000453696.2:p.Cys236_Met264del
ENST00000560467.2:c.705_791del	ENSP00000453513.2:p.Cys236_Met264del
ENST00000558518.6:c.705_791del MANE Select	ENSP00000454071.1:p.Cys236_Met264del
ENST00000252444.9:c.959_1045del
ENST00000455727.6:c.314-817_314-731del	ENSP00000397829.2:n.314-817_314-731del
ENST00000535915.5:c.582_668del	ENSP00000440520.1:p.Cys195_Met223del
ENST00000545707.5:c.324_410del	ENSP00000437639.1:p.Cys109_Met137del
ENST00000557933.5:c.705_791del	ENSP00000453557.1:p.Cys236_Met264del
ENST00000558013.5:c.705_791del	ENSP00000453346.1:p.Cys236_Met264del
ENST00000558518.5:c.705_791del	ENSP00000454071.1:p.Cys236_Met264del
ENST00000558528.1:n.220_306del
ENST00000560467.1:c.305_391del
NM_000527.4:c.705_791del , LRG_274t1:c.705_791del	NP_000518.1:p.Cys236_Met264del
NM_001195798.1:c.705_791del	NP_001182727.1:p.Cys236_Met264del
NM_001195799.1:c.582_668del	NP_001182728.1:p.Cys195_Met223del
NM_001195800.1:c.314-817_314-731del	NP_001182729.1:n.314-817_314-731del
NM_001195803.1:c.324_410del	NP_001182732.1:p.Cys109_Met137del
XM_011528010.1:c.705_791del	XP_011526312.1:p.Cys236_Met264del
XM_011528011.1:c.324_410del	XP_011526313.1:p.Cys109_Met137del
XR_244074.2:n.855_941del
XM_011528010.2:c.705_791del	XP_011526312.1:p.Cys236_Met264del
XR_001753685.2:n.822_908del
XR_001753686.2:n.822_908del
NM_000527.5:c.705_791del MANE Select	NP_000518.1:p.Cys236_Met264del
NM_001195798.2:c.705_791del	NP_001182727.1:p.Cys236_Met264del
NM_001195799.2:c.582_668del	NP_001182728.1:p.Cys195_Met223del
NM_001195800.2:c.314-817_314-731del	NP_001182729.1:n.314-817_314-731del
NM_001195803.2:c.324_410del	NP_001182732.1:p.Cys109_Met137del