Canonical Allele Identifier: CA2391566803

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289691_44289692delinsGT , CM000683.2:g.44289691_44289692delinsGT	GRCh38
NC_000021.8:g.45709574_45709575delinsGT , CM000683.1:g.45709574_45709575delinsGT	GRCh37
NC_000021.7:g.44534002_44534003delinsGT	NCBI36
NG_009556.1:g.8812_8813delinsGT , LRG_18:g.8812_8813delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.687_688delinsGT MANE Select	ENSP00000291582.5:p.Glu229=
ENST00000291582.5:c.687_688delinsGT	ENSP00000291582.5:p.Glu229=
ENST00000527919.5:n.1420_1421delinsGT
ENST00000530812.5:n.2437_2438delinsGT
NM_000383.3:c.687_688delinsGT	NP_000374.1:p.Glu229=
XM_011529551.1:c.687_688delinsGT	XP_011527853.1:p.Glu229=
NM_000383.4:c.687_688delinsGT MANE Select	NP_000374.1:p.Glu229=