Canonical Allele Identifier: CA10584856

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251155
• ClinVar RCV Id: RCV000238352
• dbSNP Id: rs879254477
• MyVariant Identifiers: chr19:g.11215907_11215919del (hg19) ; chr19:g.11105231_11105243del (hg38)
• PubMed: PMID:7573037 ; PMID:26343872

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105231_11105243del , CM000681.2:g.11105231_11105243del	GRCh38
NC_000019.9:g.11215907_11215919del , CM000681.1:g.11215907_11215919del	GRCh37
NC_000019.8:g.11076907_11076919del	NCBI36
NG_009060.1:g.20851_20863del , LRG_274:g.20851_20863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.583_595del	ENSP00000252444.6:p.Cys195SerfsTer?
ENST00000559340.2:c.325_337del	ENSP00000453696.2:p.Cys109SerfsTer?
ENST00000560467.2:c.325_337del	ENSP00000453513.2:p.Cys109SerfsTer?
ENST00000558518.6:c.325_337del MANE Select	ENSP00000454071.1:p.Cys109SerfsTer?
ENST00000252444.9:c.579_591del
ENST00000455727.6:c.314-2161_314-2149del	ENSP00000397829.2:n.314-2161_314-2149del
ENST00000535915.5:c.202_214del	ENSP00000440520.1:p.Cys68SerfsTer?
ENST00000545707.5:c.314-1334_314-1322del	ENSP00000437639.1:n.314-1334_314-1322del
ENST00000557933.5:c.325_337del	ENSP00000453557.1:p.Cys109SerfsTer?
ENST00000558013.5:c.325_337del	ENSP00000453346.1:p.Cys109SerfsTer?
ENST00000558518.5:c.325_337del	ENSP00000454071.1:p.Cys109SerfsTer?
NM_000527.4:c.325_337del , LRG_274t1:c.325_337del	NP_000518.1:p.Cys109SerfsTer?
NM_001195798.1:c.325_337del	NP_001182727.1:p.Cys109SerfsTer?
NM_001195799.1:c.202_214del	NP_001182728.1:p.Cys68SerfsTer?
NM_001195800.1:c.314-2161_314-2149del	NP_001182729.1:n.314-2161_314-2149del
NM_001195803.1:c.314-1334_314-1322del	NP_001182732.1:n.314-1334_314-1322del
XM_011528010.1:c.325_337del	XP_011526312.1:p.Cys109SerfsTer?
XM_011528011.1:c.314-1334_314-1322del	XP_011526313.1:n.314-1334_314-1322del
XR_244074.2:n.475_487del
XM_011528010.2:c.325_337del	XP_011526312.1:p.Cys109SerfsTer?
XR_001753685.2:n.442_454del
XR_001753686.2:n.442_454del
NM_000527.5:c.325_337del MANE Select	NP_000518.1:p.Cys109SerfsTer?
NM_001195798.2:c.325_337del	NP_001182727.1:p.Cys109SerfsTer?
NM_001195799.2:c.202_214del	NP_001182728.1:p.Cys68SerfsTer?
NM_001195800.2:c.314-2161_314-2149del	NP_001182729.1:n.314-2161_314-2149del
NM_001195803.2:c.314-1334_314-1322del	NP_001182732.1:n.314-1334_314-1322del