Canonical Allele Identifier: CA10584992

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251301
• ClinVar RCV Id: RCV000237547
• dbSNP Id: rs879254577
• MyVariant Identifiers: chr19:g.11216150_11216172del (hg19) ; chr19:g.11105474_11105496del (hg38)
• PubMed: PMID:7557960

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105474_11105496del , CM000681.2:g.11105474_11105496del	GRCh38
NC_000019.9:g.11216150_11216172del , CM000681.1:g.11216150_11216172del	GRCh37
NC_000019.8:g.11077150_11077172del	NCBI36
NG_009060.1:g.21094_21116del , LRG_274:g.21094_21116del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.826_848del	ENSP00000252444.6:p.Phe276LeufsTer20
ENST00000559340.2:c.568_590del	ENSP00000453696.2:p.Phe190LeufsTer20
ENST00000560467.2:c.568_590del	ENSP00000453513.2:p.Phe190LeufsTer20
ENST00000558518.6:c.568_590del MANE Select	ENSP00000454071.1:p.Phe190LeufsTer20
ENST00000252444.9:c.822_844del
ENST00000455727.6:c.314-1918_314-1896del	ENSP00000397829.2:n.314-1918_314-1896del
ENST00000535915.5:c.445_467del	ENSP00000440520.1:p.Phe149LeufsTer20
ENST00000545707.5:c.314-1091_314-1069del	ENSP00000437639.1:n.314-1091_314-1069del
ENST00000557933.5:c.568_590del	ENSP00000453557.1:p.Phe190LeufsTer20
ENST00000558013.5:c.568_590del	ENSP00000453346.1:p.Phe190LeufsTer20
ENST00000558518.5:c.568_590del	ENSP00000454071.1:p.Phe190LeufsTer20
ENST00000560467.1:c.168_190del
NM_000527.4:c.568_590del , LRG_274t1:c.568_590del	NP_000518.1:p.Phe190LeufsTer20
NM_001195798.1:c.568_590del	NP_001182727.1:p.Phe190LeufsTer20
NM_001195799.1:c.445_467del	NP_001182728.1:p.Phe149LeufsTer20
NM_001195800.1:c.314-1918_314-1896del	NP_001182729.1:n.314-1918_314-1896del
NM_001195803.1:c.314-1091_314-1069del	NP_001182732.1:n.314-1091_314-1069del
XM_011528010.1:c.568_590del	XP_011526312.1:p.Phe190LeufsTer20
XM_011528011.1:c.314-1091_314-1069del	XP_011526313.1:n.314-1091_314-1069del
XR_244074.2:n.718_740del
XM_011528010.2:c.568_590del	XP_011526312.1:p.Phe190LeufsTer20
XR_001753685.2:n.685_707del
XR_001753686.2:n.685_707del
NM_000527.5:c.568_590del MANE Select	NP_000518.1:p.Phe190LeufsTer20
NM_001195798.2:c.568_590del	NP_001182727.1:p.Phe190LeufsTer20
NM_001195799.2:c.445_467del	NP_001182728.1:p.Phe149LeufsTer20
NM_001195800.2:c.314-1918_314-1896del	NP_001182729.1:n.314-1918_314-1896del
NM_001195803.2:c.314-1091_314-1069del	NP_001182732.1:n.314-1091_314-1069del