Canonical Allele Identifier: CA2582474403

Gene: LDLR

Linked Data

• gnomAD v4: 19-11111520-A-AAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111520_11111521insAGAG , CM000681.2:g.11111520_11111521insAGAG	GRCh38
NC_000019.9:g.11222196_11222197insAGAG , CM000681.1:g.11222196_11222197insAGAG	GRCh37
NC_000019.8:g.11083196_11083197insAGAG	NCBI36
NG_009060.1:g.27140_27141insAGAG , LRG_274:g.27140_27141insAGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1325_1326insAGAG	ENSP00000252444.6:p.Asp442GlufsTer3
ENST00000559340.2:c.1067_1068insAGAG	ENSP00000453696.2:p.Asp356GlufsTer3
ENST00000560467.2:c.947_948insAGAG	ENSP00000453513.2:p.Asp316GlufsTer3
ENST00000558518.6:c.1067_1068insAGAG MANE Select	ENSP00000454071.1:p.Asp356GlufsTer3
ENST00000252444.9:c.1321_1322insAGAG
ENST00000455727.6:c.563_564insAGAG	ENSP00000397829.2:p.Asp188GlufsTer3
ENST00000535915.5:c.944_945insAGAG	ENSP00000440520.1:p.Asp315GlufsTer3
ENST00000545707.5:c.686_687insAGAG	ENSP00000437639.1:p.Asp229GlufsTer3
ENST00000557933.5:c.1067_1068insAGAG	ENSP00000453557.1:p.Asp356GlufsTer3
ENST00000558013.5:c.1067_1068insAGAG	ENSP00000453346.1:p.Asp356GlufsTer3
ENST00000558518.5:c.1067_1068insAGAG	ENSP00000454071.1:p.Asp356GlufsTer3
ENST00000560173.1:n.66_67insAGAG
ENST00000560467.1:c.547_548insAGAG
NM_000527.4:c.1067_1068insAGAG , LRG_274t1:c.1067_1068insAGAG	NP_000518.1:p.Asp356GlufsTer3
NM_001195798.1:c.1067_1068insAGAG	NP_001182727.1:p.Asp356GlufsTer3
NM_001195799.1:c.944_945insAGAG	NP_001182728.1:p.Asp315GlufsTer3
NM_001195800.1:c.563_564insAGAG	NP_001182729.1:p.Asp188GlufsTer3
NM_001195803.1:c.686_687insAGAG	NP_001182732.1:p.Asp229GlufsTer3
XM_011528010.1:c.1067_1068insAGAG	XP_011526312.1:p.Asp356GlufsTer3
XM_011528011.1:c.686_687insAGAG	XP_011526313.1:p.Asp229GlufsTer3
XR_244074.2:n.1217_1218insAGAG
XM_011528010.2:c.1067_1068insAGAG	XP_011526312.1:p.Asp356GlufsTer3
XR_001753685.2:n.1184_1185insAGAG
XR_001753686.2:n.1184_1185insAGAG
NM_000527.5:c.1067_1068insAGAG MANE Select	NP_000518.1:p.Asp356GlufsTer3
NM_001195798.2:c.1067_1068insAGAG	NP_001182727.1:p.Asp356GlufsTer3
NM_001195799.2:c.944_945insAGAG	NP_001182728.1:p.Asp315GlufsTer3
NM_001195800.2:c.563_564insAGAG	NP_001182729.1:p.Asp188GlufsTer3
NM_001195803.2:c.686_687insAGAG	NP_001182732.1:p.Asp229GlufsTer3