Canonical Allele Identifier: CA2391565560

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44287305_44287309delinsGCTCC , CM000683.2:g.44287305_44287309delinsGCTCC	GRCh38
NC_000021.8:g.45707188_45707192delinsGCTCC , CM000683.1:g.45707188_45707192delinsGCTCC	GRCh37
NC_000021.7:g.44531616_44531620delinsGCTCC	NCBI36
NG_009556.1:g.6426_6430delinsGCTCC , LRG_18:g.6426_6430delinsGCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.463+172_463+176delinsGCTCC MANE Select	ENSP00000291582.5:n.463+172_463+176delinsGCTCC
ENST00000291582.5:c.463+172_463+176delinsGCTCC	ENSP00000291582.5:n.463+172_463+176delinsGCTCC
ENST00000527919.5:n.796_800delinsGCTCC
ENST00000530812.5:n.804_808delinsGCTCC
NM_000383.3:c.463+172_463+176delinsGCTCC	NP_000374.1:n.463+172_463+176delinsGCTCC
XM_011529551.1:c.463+172_463+176delinsGCTCC	XP_011527853.1:n.463+172_463+176delinsGCTCC
NM_000383.4:c.463+172_463+176delinsGCTCC MANE Select	NP_000374.1:n.463+172_463+176delinsGCTCC