Canonical Allele Identifier: CA2654789674

Gene: AIRE

Linked Data

• gnomAD v4: 21-44288293-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288295dup , CM000683.2:g.44288295dup	GRCh38
NC_000021.8:g.45708178dup , CM000683.1:g.45708178dup	GRCh37
NC_000021.7:g.44532606dup	NCBI36
NG_009556.1:g.7416dup , LRG_18:g.7416dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.539-50dup MANE Select	ENSP00000291582.5:n.539-50dup
ENST00000291582.5:c.539-50dup	ENSP00000291582.5:n.539-50dup
ENST00000527919.5:n.1083-50dup
ENST00000530812.5:n.1091-50dup
NM_000383.3:c.539-50dup	NP_000374.1:n.539-50dup
XM_011529551.1:c.539-50dup	XP_011527853.1:n.539-50dup
NM_000383.4:c.539-50dup MANE Select	NP_000374.1:n.539-50dup