Canonical Allele Identifier: CA2391566829

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289743_44289746delinsCGCA , CM000683.2:g.44289743_44289746delinsCGCA	GRCh38
NC_000021.8:g.45709626_45709629delinsCGCA , CM000683.1:g.45709626_45709629delinsCGCA	GRCh37
NC_000021.7:g.44534054_44534057delinsCGCA	NCBI36
NG_009556.1:g.8864_8867delinsCGCA , LRG_18:g.8864_8867delinsCGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.739_742delinsCGCA MANE Select	ENSP00000291582.5:p.Arg247=
ENST00000291582.5:c.739_742delinsCGCA	ENSP00000291582.5:p.Arg247=
ENST00000527919.5:n.1472_1475delinsCGCA
ENST00000530812.5:n.2489_2492delinsCGCA
NM_000383.3:c.739_742delinsCGCA	NP_000374.1:p.Arg247=
XM_011529551.1:c.739_742delinsCGCA	XP_011527853.1:p.Arg247=
NM_000383.4:c.739_742delinsCGCA MANE Select	NP_000374.1:p.Arg247=