Canonical Allele Identifier: CA10585052

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251360
• ClinVar RCV Id: RCV000237641
• dbSNP Id: rs879254622
• MyVariant Identifiers: chr19:g.11216246_11216263delinsCCGACTG (hg19) ; chr19:g.11105570_11105587delinsCCGACTG (hg38)
• PubMed: PMID:20809525

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105570_11105587delinsCCGACTG , CM000681.2:g.11105570_11105587delinsCCGACTG	GRCh38
NC_000019.9:g.11216246_11216263delinsCCGACTG , CM000681.1:g.11216246_11216263delinsCCGACTG	GRCh37
NC_000019.8:g.11077246_11077263delinsCCGACTG	NCBI36
NG_009060.1:g.21190_21207delinsCCGACTG , LRG_274:g.21190_21207delinsCCGACTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.922_939delinsCCGACTG	ENSP00000252444.6:p.Cys308ProfsTer14
ENST00000559340.2:c.664_681delinsCCGACTG	ENSP00000453696.2:p.Cys222ProfsTer14
ENST00000560467.2:c.664_681delinsCCGACTG	ENSP00000453513.2:p.Cys222ProfsTer14
ENST00000558518.6:c.664_681delinsCCGACTG MANE Select	ENSP00000454071.1:p.Cys222ProfsTer14
ENST00000252444.9:c.918_935delinsCCGACTG
ENST00000455727.6:c.314-1822_314-1805delinsCCGACTG	ENSP00000397829.2:n.314-1822_314-1805deli...
ENST00000535915.5:c.541_558delinsCCGACTG	ENSP00000440520.1:p.Cys181ProfsTer14
ENST00000545707.5:c.314-995_314-978delinsCCGACTG	ENSP00000437639.1:n.314-995_314-978delins...
ENST00000557933.5:c.664_681delinsCCGACTG	ENSP00000453557.1:p.Cys222ProfsTer14
ENST00000558013.5:c.664_681delinsCCGACTG	ENSP00000453346.1:p.Cys222ProfsTer14
ENST00000558518.5:c.664_681delinsCCGACTG	ENSP00000454071.1:p.Cys222ProfsTer14
ENST00000560467.1:c.264_281delinsCCGACTG
NM_000527.4:c.664_681delinsCCGACTG , LRG_274t1:c.664_681delinsCCGACTG	NP_000518.1:p.Cys222ProfsTer14
NM_001195798.1:c.664_681delinsCCGACTG	NP_001182727.1:p.Cys222ProfsTer14
NM_001195799.1:c.541_558delinsCCGACTG	NP_001182728.1:p.Cys181ProfsTer14
NM_001195800.1:c.314-1822_314-1805delinsCCGACTG	NP_001182729.1:n.314-1822_314-1805delinsC...
NM_001195803.1:c.314-995_314-978delinsCCGACTG	NP_001182732.1:n.314-995_314-978delinsCCG...
XM_011528010.1:c.664_681delinsCCGACTG	XP_011526312.1:p.Cys222ProfsTer14
XM_011528011.1:c.314-995_314-978delinsCCGACTG	XP_011526313.1:n.314-995_314-978delinsCCG...
XR_244074.2:n.814_831delinsCCGACTG
XM_011528010.2:c.664_681delinsCCGACTG	XP_011526312.1:p.Cys222ProfsTer14
XR_001753685.2:n.781_798delinsCCGACTG
XR_001753686.2:n.781_798delinsCCGACTG
NM_000527.5:c.664_681delinsCCGACTG MANE Select	NP_000518.1:p.Cys222ProfsTer14
NM_001195798.2:c.664_681delinsCCGACTG	NP_001182727.1:p.Cys222ProfsTer14
NM_001195799.2:c.541_558delinsCCGACTG	NP_001182728.1:p.Cys181ProfsTer14
NM_001195800.2:c.314-1822_314-1805delinsCCGACTG	NP_001182729.1:n.314-1822_314-1805delinsC...
NM_001195803.2:c.314-995_314-978delinsCCGACTG	NP_001182732.1:n.314-995_314-978delinsCCG...