Canonical Allele Identifier: CA2577619970

Gene: AIRE

Linked Data

• gnomAD v4: 21-44290221-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290221_44290222insC , CM000683.2:g.44290221_44290222insC	GRCh38
NC_000021.8:g.45710104_45710105insC , CM000683.1:g.45710104_45710105insC	GRCh37
NC_000021.7:g.44534532_44534533insC	NCBI36
NG_009556.1:g.9342_9343insC , LRG_18:g.9342_9343insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.879+153_879+154insC MANE Select	ENSP00000291582.5:n.879+153_879+154insC
ENST00000291582.5:c.879+153_879+154insC	ENSP00000291582.5:n.879+153_879+154insC
ENST00000527919.5:n.1612+153_1612+154insC
ENST00000530812.5:n.2629+153_2629+154insC
NM_000383.3:c.879+153_879+154insC	NP_000374.1:n.879+153_879+154insC
XM_011529551.1:c.879+153_879+154insC	XP_011527853.1:n.879+153_879+154insC
NM_000383.4:c.879+153_879+154insC MANE Select	NP_000374.1:n.879+153_879+154insC