Canonical Allele Identifier: CA250482

Gene: LDLR

Linked Data

• ClinVar Variation Id: 3733
• ClinVar RCV Id: RCV000003931 ; RCV001201377 ; RCV003457636
• dbSNP Id: rs387906306
• gnomAD v2: 19-11216242-C-CGACTGCAAGGACAAATCT
• gnomAD v4: 19-11105566-C-CGACTGCAAGGACAAATCT
• MyVariant Identifiers: chr19:g.11216246_11216263dup18 (hg19) ; chr19:g.11216263_11216264insTGCAAGGACAAATCTGAC (hg19) ; chr19:g.11216242_11216243insGACTGCAAGGACAAATCT (hg19) ; chr19:g.11105570_11105587dup18 (hg38) ; chr19:g.11105587_11105588insTGCAAGGACAAATCTGAC (hg38)
• PubMed: PMID:7581403 ; PMID:7649546 ; PMID:10978268 ; PMID:20145306

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105570_11105587dup , CM000681.2:g.11105570_11105587dup	GRCh38
NC_000019.9:g.11216246_11216263dup , CM000681.1:g.11216246_11216263dup	GRCh37
NC_000019.8:g.11077246_11077263dup	NCBI36
NG_009060.1:g.21190_21207dup , LRG_274:g.21190_21207dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.922_939dup	ENSP00000252444.6:p.Asp313_Glu314insCysLy...
ENST00000559340.2:c.664_681dup	ENSP00000453696.2:p.Asp227_Glu228insCysLy...
ENST00000560467.2:c.664_681dup	ENSP00000453513.2:p.Asp227_Glu228insCysLy...
ENST00000558518.6:c.664_681dup MANE Select	ENSP00000454071.1:p.Asp227_Glu228insCysLy...
ENST00000252444.9:c.918_935dup
ENST00000455727.6:c.314-1822_314-1805dup	ENSP00000397829.2:n.314-1822_314-1805dup
ENST00000535915.5:c.541_558dup	ENSP00000440520.1:p.Asp186_Glu187insCysLy...
ENST00000545707.5:c.314-995_314-978dup	ENSP00000437639.1:n.314-995_314-978dup
ENST00000557933.5:c.664_681dup	ENSP00000453557.1:p.Asp227_Glu228insCysLy...
ENST00000558013.5:c.664_681dup	ENSP00000453346.1:p.Asp227_Glu228insCysLy...
ENST00000558518.5:c.664_681dup	ENSP00000454071.1:p.Asp227_Glu228insCysLy...
ENST00000560467.1:c.264_281dup
NM_000527.4:c.664_681dup , LRG_274t1:c.664_681dup	NP_000518.1:p.Asp227_Glu228insCysLysAspLy...
NM_001195798.1:c.664_681dup	NP_001182727.1:p.Asp227_Glu228insCysLysAs...
NM_001195799.1:c.541_558dup	NP_001182728.1:p.Asp186_Glu187insCysLysAs...
NM_001195800.1:c.314-1822_314-1805dup	NP_001182729.1:n.314-1822_314-1805dup
NM_001195803.1:c.314-995_314-978dup	NP_001182732.1:n.314-995_314-978dup
XM_011528010.1:c.664_681dup	XP_011526312.1:p.Asp227_Glu228insCysLysAs...
XM_011528011.1:c.314-995_314-978dup	XP_011526313.1:n.314-995_314-978dup
XR_244074.2:n.814_831dup
XM_011528010.2:c.664_681dup	XP_011526312.1:p.Asp227_Glu228insCysLysAs...
XR_001753685.2:n.781_798dup
XR_001753686.2:n.781_798dup
NM_000527.5:c.664_681dup MANE Select	NP_000518.1:p.Asp227_Glu228insCysLysAspLy...
NM_001195798.2:c.664_681dup	NP_001182727.1:p.Asp227_Glu228insCysLysAs...
NM_001195799.2:c.541_558dup	NP_001182728.1:p.Asp186_Glu187insCysLysAs...
NM_001195800.2:c.314-1822_314-1805dup	NP_001182729.1:n.314-1822_314-1805dup
NM_001195803.2:c.314-995_314-978dup	NP_001182732.1:n.314-995_314-978dup