Canonical Allele Identifier: CA2391567089

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290230_44290231delinsCT , CM000683.2:g.44290230_44290231delinsCT	GRCh38
NC_000021.8:g.45710113_45710114delinsCT , CM000683.1:g.45710113_45710114delinsCT	GRCh37
NC_000021.7:g.44534541_44534542delinsCT	NCBI36
NG_009556.1:g.9351_9352delinsCT , LRG_18:g.9351_9352delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.879+162_879+163delinsCT MANE Select	ENSP00000291582.5:n.879+162_879+163delinsCT
ENST00000291582.5:c.879+162_879+163delinsCT	ENSP00000291582.5:n.879+162_879+163delinsCT
ENST00000527919.5:n.1612+162_1612+163delinsCT
ENST00000530812.5:n.2629+162_2629+163delinsCT
NM_000383.3:c.879+162_879+163delinsCT	NP_000374.1:n.879+162_879+163delinsCT
XM_011529551.1:c.879+162_879+163delinsCT	XP_011527853.1:n.879+162_879+163delinsCT
NM_000383.4:c.879+162_879+163delinsCT MANE Select	NP_000374.1:n.879+162_879+163delinsCT