Canonical Allele Identifier: CA2654792135

Gene: AIRE

Linked Data

• gnomAD v4: 21-44289803-G-GGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289803_44289804insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT , CM000683.2:g.44289803_44289804insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT	GRCh38
NC_000021.8:g.45709686_45709687insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT , CM000683.1:g.45709686_45709687insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT	GRCh37
NC_000021.7:g.44534114_44534115insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT	NCBI36
NG_009556.1:g.8924_8925insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT , LRG_18:g.8924_8925insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.798+1_798+2insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT MANE Select	ENSP00000291582.5:n.798+1_798+2insGTGGAGGTGAGGCTAGGCTGGGCCAGC...
ENST00000291582.5:c.798+1_798+2insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT	ENSP00000291582.5:n.798+1_798+2insGTGGAGGTGAGGCTAGGCTGGGCCAGC...
ENST00000527919.5:n.1531+1_1531+2insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT
ENST00000530812.5:n.2548+1_2548+2insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT
NM_000383.3:c.798+1_798+2insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT	NP_000374.1:n.798+1_798+2insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCA...
XM_011529551.1:c.798+1_798+2insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT	XP_011527853.1:n.798+1_798+2insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGG...
NM_000383.4:c.798+1_798+2insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGT MANE Select	NP_000374.1:n.798+1_798+2insGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCA...