Canonical Allele Identifier: CA2322777310

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123389_11123390delinsGT , CM000681.2:g.11123389_11123390delinsGT	GRCh38
NC_000019.9:g.11234065_11234066delinsGT , CM000681.1:g.11234065_11234066delinsGT	GRCh37
NC_000019.8:g.11095065_11095066delinsGT	NCBI36
NG_009060.1:g.39009_39010delinsGT , LRG_274:g.39009_39010delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2569+45_2569+46delinsGT	ENSP00000252444.6:n.2569+45_2569+46delinsGT
ENST00000559340.2:c.*380+45_*380+46delinsGT	ENSP00000453696.2:n.*380+45_*380+46delinsGT
ENST00000560467.2:c.2191+45_2191+46delinsGT	ENSP00000453513.2:n.2191+45_2191+46delinsGT
ENST00000558518.6:c.2311+45_2311+46delinsGT MANE Select	ENSP00000454071.1:n.2311+45_2311+46delinsGT
ENST00000252444.9:c.2565+45_2565+46delinsGT
ENST00000455727.6:c.1807+45_1807+46delinsGT	ENSP00000397829.2:n.1807+45_1807+46delinsGT
ENST00000535915.5:c.2188+45_2188+46delinsGT	ENSP00000440520.1:n.2188+45_2188+46delinsGT
ENST00000545707.5:c.1777+45_1777+46delinsGT	ENSP00000437639.1:n.1777+45_1777+46delinsGT
ENST00000557933.5:c.2311+45_2311+46delinsGT	ENSP00000453557.1:n.2311+45_2311+46delinsGT
ENST00000558013.5:c.2311+45_2311+46delinsGT	ENSP00000453346.1:n.2311+45_2311+46delinsGT
ENST00000558518.5:c.2311+45_2311+46delinsGT	ENSP00000454071.1:n.2311+45_2311+46delinsGT
NM_000527.4:c.2311+45_2311+46delinsGT , LRG_274t1:c.2311+45_2311+46delinsGT	NP_000518.1:n.2311+45_2311+46delinsGT
NM_001195798.1:c.2311+45_2311+46delinsGT	NP_001182727.1:n.2311+45_2311+46delinsGT
NM_001195799.1:c.2188+45_2188+46delinsGT	NP_001182728.1:n.2188+45_2188+46delinsGT
NM_001195800.1:c.1807+45_1807+46delinsGT	NP_001182729.1:n.1807+45_1807+46delinsGT
NM_001195803.1:c.1777+45_1777+46delinsGT	NP_001182732.1:n.1777+45_1777+46delinsGT
XM_011528010.1:c.2311+45_2311+46delinsGT	XP_011526312.1:n.2311+45_2311+46delinsGT
XM_011528011.1:c.1930+45_1930+46delinsGT	XP_011526313.1:n.1930+45_1930+46delinsGT
XR_244074.2:n.2321+45_2321+46delinsGT
XM_011528010.2:c.2311+45_2311+46delinsGT	XP_011526312.1:n.2311+45_2311+46delinsGT
XR_001753685.2:n.2645+45_2645+46delinsGT
XR_001753686.2:n.2288+45_2288+46delinsGT
NM_000527.5:c.2311+45_2311+46delinsGT MANE Select	NP_000518.1:n.2311+45_2311+46delinsGT
NM_001195798.2:c.2311+45_2311+46delinsGT	NP_001182727.1:n.2311+45_2311+46delinsGT
NM_001195799.2:c.2188+45_2188+46delinsGT	NP_001182728.1:n.2188+45_2188+46delinsGT
NM_001195800.2:c.1807+45_1807+46delinsGT	NP_001182729.1:n.1807+45_1807+46delinsGT
NM_001195803.2:c.1777+45_1777+46delinsGT	NP_001182732.1:n.1777+45_1777+46delinsGT