Canonical Allele Identifier: CA2580096479

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1754692
• ClinVar RCV Id: RCV002366854

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105571_11105585dup , CM000681.2:g.11105571_11105585dup	GRCh38
NC_000019.9:g.11216247_11216261dup , CM000681.1:g.11216247_11216261dup	GRCh37
NC_000019.8:g.11077247_11077261dup	NCBI36
NG_009060.1:g.21191_21205dup , LRG_274:g.21191_21205dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.923_937dup	ENSP00000252444.6:p.Ser312_Asp313insGlyLy...
ENST00000559340.2:c.665_679dup	ENSP00000453696.2:p.Ser226_Asp227insGlyLy...
ENST00000560467.2:c.665_679dup	ENSP00000453513.2:p.Ser226_Asp227insGlyLy...
ENST00000558518.6:c.665_679dup MANE Select	ENSP00000454071.1:p.Ser226_Asp227insGlyLy...
ENST00000252444.9:c.919_933dup
ENST00000455727.6:c.314-1821_314-1807dup	ENSP00000397829.2:n.314-1821_314-1807dup
ENST00000535915.5:c.542_556dup	ENSP00000440520.1:p.Ser185_Asp186insGlyLy...
ENST00000545707.5:c.314-994_314-980dup	ENSP00000437639.1:n.314-994_314-980dup
ENST00000557933.5:c.665_679dup	ENSP00000453557.1:p.Ser226_Asp227insGlyLy...
ENST00000558013.5:c.665_679dup	ENSP00000453346.1:p.Ser226_Asp227insGlyLy...
ENST00000558518.5:c.665_679dup	ENSP00000454071.1:p.Ser226_Asp227insGlyLy...
ENST00000560467.1:c.265_279dup
NM_000527.4:c.665_679dup , LRG_274t1:c.665_679dup	NP_000518.1:p.Ser226_Asp227insGlyLysAspLy...
NM_001195798.1:c.665_679dup	NP_001182727.1:p.Ser226_Asp227insGlyLysAs...
NM_001195799.1:c.542_556dup	NP_001182728.1:p.Ser185_Asp186insGlyLysAs...
NM_001195800.1:c.314-1821_314-1807dup	NP_001182729.1:n.314-1821_314-1807dup
NM_001195803.1:c.314-994_314-980dup	NP_001182732.1:n.314-994_314-980dup
XM_011528010.1:c.665_679dup	XP_011526312.1:p.Ser226_Asp227insGlyLysAs...
XM_011528011.1:c.314-994_314-980dup	XP_011526313.1:n.314-994_314-980dup
XR_244074.2:n.815_829dup
XM_011528010.2:c.665_679dup	XP_011526312.1:p.Ser226_Asp227insGlyLysAs...
XR_001753685.2:n.782_796dup
XR_001753686.2:n.782_796dup
NM_000527.5:c.665_679dup MANE Select	NP_000518.1:p.Ser226_Asp227insGlyLysAspLy...
NM_001195798.2:c.665_679dup	NP_001182727.1:p.Ser226_Asp227insGlyLysAs...
NM_001195799.2:c.542_556dup	NP_001182728.1:p.Ser185_Asp186insGlyLysAs...
NM_001195800.2:c.314-1821_314-1807dup	NP_001182729.1:n.314-1821_314-1807dup
NM_001195803.2:c.314-994_314-980dup	NP_001182732.1:n.314-994_314-980dup