Canonical Allele Identifier: CA10585759

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252205
• ClinVar RCV Id: RCV000237925 ; RCV002418068
• dbSNP Id: rs879255130
• gnomAD v4: 19-11120445-AC-A
• MyVariant Identifiers: chr19:g.11231126del (hg19) ; chr19:g.11120450del (hg38)
• PubMed: PMID:11754108 ; PMID:22698793

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120450del , CM000681.2:g.11120450del	GRCh38
NC_000019.9:g.11231126del , CM000681.1:g.11231126del	GRCh37
NC_000019.8:g.11092126del	NCBI36
NG_009060.1:g.36070del , LRG_274:g.36070del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2326del	ENSP00000252444.6:p.His776ThrfsTer19
ENST00000559340.2:c.*137del	ENSP00000453696.2:n.*137del
ENST00000560467.2:c.1948del	ENSP00000453513.2:p.His650ThrfsTer19
ENST00000558518.6:c.2068del MANE Select	ENSP00000454071.1:p.His690ThrfsTer19
ENST00000252444.9:c.2322del
ENST00000455727.6:c.1564del	ENSP00000397829.2:p.His522ThrfsTer19
ENST00000535915.5:c.1945del	ENSP00000440520.1:p.His649ThrfsTer19
ENST00000545707.5:c.1606+217del	ENSP00000437639.1:n.1606+217del
ENST00000557933.5:c.2068del	ENSP00000453557.1:p.His690ThrfsTer19
ENST00000558013.5:c.2068del	ENSP00000453346.1:p.His690ThrfsTer19
ENST00000558518.5:c.2068del	ENSP00000454071.1:p.His690ThrfsTer19
NM_000527.4:c.2068del , LRG_274t1:c.2068del	NP_000518.1:p.His690ThrfsTer19
NM_001195798.1:c.2068del	NP_001182727.1:p.His690ThrfsTer19
NM_001195799.1:c.1945del	NP_001182728.1:p.His649ThrfsTer19
NM_001195800.1:c.1564del	NP_001182729.1:p.His522ThrfsTer19
NM_001195803.1:c.1606+217del	NP_001182732.1:n.1606+217del
XM_011528010.1:c.2068del	XP_011526312.1:p.His690ThrfsTer19
XM_011528011.1:c.1687del	XP_011526313.1:p.His563ThrfsTer19
XR_244074.2:n.2078del
XM_011528010.2:c.2068del	XP_011526312.1:p.His690ThrfsTer19
XR_001753685.2:n.2185del
XR_001753686.2:n.2045del
NM_000527.5:c.2068del MANE Select	NP_000518.1:p.His690ThrfsTer19
NM_001195798.2:c.2068del	NP_001182727.1:p.His690ThrfsTer19
NM_001195799.2:c.1945del	NP_001182728.1:p.His649ThrfsTer19
NM_001195800.2:c.1564del	NP_001182729.1:p.His522ThrfsTer19
NM_001195803.2:c.1606+217del	NP_001182732.1:n.1606+217del