Canonical Allele Identifier: CA2580096382

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2131185
• ClinVar RCV Id: RCV003061884

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111520_11111521insAGAGTGTCAGGATCCCGA , CM000681.2:g.11111520_11111521insAGAGTGTCAGGATCCCGA	GRCh38
NC_000019.9:g.11222196_11222197insAGAGTGTCAGGATCCCGA , CM000681.1:g.11222196_11222197insAGAGTGTCAGGATCCCGA	GRCh37
NC_000019.8:g.11083196_11083197insAGAGTGTCAGGATCCCGA	NCBI36
NG_009060.1:g.27140_27141insAGAGTGTCAGGATCCCGA , LRG_274:g.27140_27141insAGAGTGTCAGGATCCCGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1325_1326insAGAGTGTCAGGATCCCGA	ENSP00000252444.6:p.Ile441_Asp442insGluGl...
ENST00000559340.2:c.1067_1068insAGAGTGTCAGGATCCCGA	ENSP00000453696.2:p.Ile355_Asp356insGluGl...
ENST00000560467.2:c.947_948insAGAGTGTCAGGATCCCGA	ENSP00000453513.2:p.Ile315_Asp316insGluGl...
ENST00000558518.6:c.1067_1068insAGAGTGTCAGGATCCCGA MANE Select	ENSP00000454071.1:p.Ile355_Asp356insGluGl...
ENST00000252444.9:c.1321_1322insAGAGTGTCAGGATCCCGA
ENST00000455727.6:c.563_564insAGAGTGTCAGGATCCCGA	ENSP00000397829.2:p.Ile187_Asp188insGluGl...
ENST00000535915.5:c.944_945insAGAGTGTCAGGATCCCGA	ENSP00000440520.1:p.Ile314_Asp315insGluGl...
ENST00000545707.5:c.686_687insAGAGTGTCAGGATCCCGA	ENSP00000437639.1:p.Ile228_Asp229insGluGl...
ENST00000557933.5:c.1067_1068insAGAGTGTCAGGATCCCGA	ENSP00000453557.1:p.Ile355_Asp356insGluGl...
ENST00000558013.5:c.1067_1068insAGAGTGTCAGGATCCCGA	ENSP00000453346.1:p.Ile355_Asp356insGluGl...
ENST00000558518.5:c.1067_1068insAGAGTGTCAGGATCCCGA	ENSP00000454071.1:p.Ile355_Asp356insGluGl...
ENST00000560173.1:n.66_67insAGAGTGTCAGGATCCCGA
ENST00000560467.1:c.547_548insAGAGTGTCAGGATCCCGA
NM_000527.4:c.1067_1068insAGAGTGTCAGGATCCCGA , LRG_274t1:c.1067_1068insAGAGTGTCAGGATCCCGA	NP_000518.1:p.Ile355_Asp356insGluGluCysGl...
NM_001195798.1:c.1067_1068insAGAGTGTCAGGATCCCGA	NP_001182727.1:p.Ile355_Asp356insGluGluCy...
NM_001195799.1:c.944_945insAGAGTGTCAGGATCCCGA	NP_001182728.1:p.Ile314_Asp315insGluGluCy...
NM_001195800.1:c.563_564insAGAGTGTCAGGATCCCGA	NP_001182729.1:p.Ile187_Asp188insGluGluCy...
NM_001195803.1:c.686_687insAGAGTGTCAGGATCCCGA	NP_001182732.1:p.Ile228_Asp229insGluGluCy...
XM_011528010.1:c.1067_1068insAGAGTGTCAGGATCCCGA	XP_011526312.1:p.Ile355_Asp356insGluGluCy...
XM_011528011.1:c.686_687insAGAGTGTCAGGATCCCGA	XP_011526313.1:p.Ile228_Asp229insGluGluCy...
XR_244074.2:n.1217_1218insAGAGTGTCAGGATCCCGA
XM_011528010.2:c.1067_1068insAGAGTGTCAGGATCCCGA	XP_011526312.1:p.Ile355_Asp356insGluGluCy...
XR_001753685.2:n.1184_1185insAGAGTGTCAGGATCCCGA
XR_001753686.2:n.1184_1185insAGAGTGTCAGGATCCCGA
NM_000527.5:c.1067_1068insAGAGTGTCAGGATCCCGA MANE Select	NP_000518.1:p.Ile355_Asp356insGluGluCysGl...
NM_001195798.2:c.1067_1068insAGAGTGTCAGGATCCCGA	NP_001182727.1:p.Ile355_Asp356insGluGluCy...
NM_001195799.2:c.944_945insAGAGTGTCAGGATCCCGA	NP_001182728.1:p.Ile314_Asp315insGluGluCy...
NM_001195800.2:c.563_564insAGAGTGTCAGGATCCCGA	NP_001182729.1:p.Ile187_Asp188insGluGluCy...
NM_001195803.2:c.686_687insAGAGTGTCAGGATCCCGA	NP_001182732.1:p.Ile228_Asp229insGluGluCy...