Canonical Allele Identifier: CA2391565541

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44287275_44287276delinsAC , CM000683.2:g.44287275_44287276delinsAC	GRCh38
NC_000021.8:g.45707158_45707159delinsAC , CM000683.1:g.45707158_45707159delinsAC	GRCh37
NC_000021.7:g.44531586_44531587delinsAC	NCBI36
NG_009556.1:g.6396_6397delinsAC , LRG_18:g.6396_6397delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.463+142_463+143delinsAC MANE Select	ENSP00000291582.5:n.463+142_463+143delinsAC
ENST00000291582.5:c.463+142_463+143delinsAC	ENSP00000291582.5:n.463+142_463+143delinsAC
ENST00000527919.5:n.766_767delinsAC
ENST00000530812.5:n.774_775delinsAC
NM_000383.3:c.463+142_463+143delinsAC	NP_000374.1:n.463+142_463+143delinsAC
XM_011529551.1:c.463+142_463+143delinsAC	XP_011527853.1:n.463+142_463+143delinsAC
NM_000383.4:c.463+142_463+143delinsAC MANE Select	NP_000374.1:n.463+142_463+143delinsAC