Canonical Allele Identifier: CA10585050

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251358
• ClinVar RCV Id: RCV000238041 ; RCV000586459
• dbSNP Id: rs879254620
• gnomAD v2: 19-11216241-C-CCGACTGCAAGGACAAATCTGA
• gnomAD v3: 19-11105565-C-CCGACTGCAAGGACAAATCTGA
• gnomAD v4: 19-11105565-C-CCGACTGCAAGGACAAATCTGA
• MyVariant Identifiers: chr19:g.11216245_11216265dup21 (hg19) ; chr19:g.11216265_11216266insCTGCAAGGACAAATCTGACGA (hg19) ; chr19:g.11105569_11105589dup21 (hg38) ; chr19:g.11105589_11105590insCTGCAAGGACAAATCTGACGA (hg38)
• PubMed: PMID:1301956 ; PMID:8599353 ; PMID:9026534 ; PMID:10447263 ; PMID:16250003 ; PMID:17094996

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105569_11105589dup , CM000681.2:g.11105569_11105589dup	GRCh38
NC_000019.9:g.11216245_11216265dup , CM000681.1:g.11216245_11216265dup	GRCh37
NC_000019.8:g.11077245_11077265dup	NCBI36
NG_009060.1:g.21189_21209dup , LRG_274:g.21189_21209dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.921_941dup	ENSP00000252444.6:p.Asp313_Glu314insAspCy...
ENST00000559340.2:c.663_683dup	ENSP00000453696.2:p.Asp227_Glu228insAspCy...
ENST00000560467.2:c.663_683dup	ENSP00000453513.2:p.Asp227_Glu228insAspCy...
ENST00000558518.6:c.663_683dup MANE Select	ENSP00000454071.1:p.Asp227_Glu228insAspCy...
ENST00000252444.9:c.917_937dup
ENST00000455727.6:c.314-1823_314-1803dup	ENSP00000397829.2:n.314-1823_314-1803dup
ENST00000535915.5:c.540_560dup	ENSP00000440520.1:p.Asp186_Glu187insAspCy...
ENST00000545707.5:c.314-996_314-976dup	ENSP00000437639.1:n.314-996_314-976dup
ENST00000557933.5:c.663_683dup	ENSP00000453557.1:p.Asp227_Glu228insAspCy...
ENST00000558013.5:c.663_683dup	ENSP00000453346.1:p.Asp227_Glu228insAspCy...
ENST00000558518.5:c.663_683dup	ENSP00000454071.1:p.Asp227_Glu228insAspCy...
ENST00000560467.1:c.263_283dup
NM_000527.4:c.663_683dup , LRG_274t1:c.663_683dup	NP_000518.1:p.Asp227_Glu228insAspCysLysAs...
NM_001195798.1:c.663_683dup	NP_001182727.1:p.Asp227_Glu228insAspCysLy...
NM_001195799.1:c.540_560dup	NP_001182728.1:p.Asp186_Glu187insAspCysLy...
NM_001195800.1:c.314-1823_314-1803dup	NP_001182729.1:n.314-1823_314-1803dup
NM_001195803.1:c.314-996_314-976dup	NP_001182732.1:n.314-996_314-976dup
XM_011528010.1:c.663_683dup	XP_011526312.1:p.Asp227_Glu228insAspCysLy...
XM_011528011.1:c.314-996_314-976dup	XP_011526313.1:n.314-996_314-976dup
XR_244074.2:n.813_833dup
XM_011528010.2:c.663_683dup	XP_011526312.1:p.Asp227_Glu228insAspCysLy...
XR_001753685.2:n.780_800dup
XR_001753686.2:n.780_800dup
NM_000527.5:c.663_683dup MANE Select	NP_000518.1:p.Asp227_Glu228insAspCysLysAs...
NM_001195798.2:c.663_683dup	NP_001182727.1:p.Asp227_Glu228insAspCysLy...
NM_001195799.2:c.540_560dup	NP_001182728.1:p.Asp186_Glu187insAspCysLy...
NM_001195800.2:c.314-1823_314-1803dup	NP_001182729.1:n.314-1823_314-1803dup
NM_001195803.2:c.314-996_314-976dup	NP_001182732.1:n.314-996_314-976dup