Canonical Allele Identifier: CA2391566881

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289842_44289843delinsGC , CM000683.2:g.44289842_44289843delinsGC	GRCh38
NC_000021.8:g.45709725_45709726delinsGC , CM000683.1:g.45709725_45709726delinsGC	GRCh37
NC_000021.7:g.44534153_44534154delinsGC	NCBI36
NG_009556.1:g.8963_8964delinsGC , LRG_18:g.8963_8964delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.798+40_798+41delinsGC MANE Select	ENSP00000291582.5:n.798+40_798+41delinsGC
ENST00000291582.5:c.798+40_798+41delinsGC	ENSP00000291582.5:n.798+40_798+41delinsGC
ENST00000527919.5:n.1531+40_1531+41delinsGC
ENST00000530812.5:n.2548+40_2548+41delinsGC
NM_000383.3:c.798+40_798+41delinsGC	NP_000374.1:n.798+40_798+41delinsGC
XM_011529551.1:c.798+40_798+41delinsGC	XP_011527853.1:n.798+40_798+41delinsGC
NM_000383.4:c.798+40_798+41delinsGC MANE Select	NP_000374.1:n.798+40_798+41delinsGC