Canonical Allele Identifier: CA2654791963

Gene: AIRE

Linked Data

• gnomAD v4: 21-44289685-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289685_44289686insT , CM000683.2:g.44289685_44289686insT	GRCh38
NC_000021.8:g.45709568_45709569insT , CM000683.1:g.45709568_45709569insT	GRCh37
NC_000021.7:g.44533996_44533997insT	NCBI36
NG_009556.1:g.8806_8807insT , LRG_18:g.8806_8807insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.681_682insT MANE Select	ENSP00000291582.5:p.Gly228TrpfsTer?
ENST00000291582.5:c.681_682insT	ENSP00000291582.5:p.Gly228TrpfsTer?
ENST00000527919.5:n.1414_1415insT
ENST00000530812.5:n.2431_2432insT
NM_000383.3:c.681_682insT	NP_000374.1:p.Gly228TrpfsTer?
XM_011529551.1:c.681_682insT	XP_011527853.1:p.Gly228TrpfsTer?
NM_000383.4:c.681_682insT MANE Select	NP_000374.1:p.Gly228TrpfsTer?