Canonical Allele Identifier: CA2818037985

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289846_44289848dup , CM000683.2:g.44289846_44289848dup	GRCh38
NC_000021.8:g.45709729_45709731dup , CM000683.1:g.45709729_45709731dup	GRCh37
NC_000021.7:g.44534157_44534159dup	NCBI36
NG_009556.1:g.8967_8969dup , LRG_18:g.8967_8969dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.798+44_798+46dup MANE Select	ENSP00000291582.5:n.798+44_798+46dup
ENST00000291582.5:c.798+44_798+46dup	ENSP00000291582.5:n.798+44_798+46dup
ENST00000527919.5:n.1531+44_1531+46dup
ENST00000530812.5:n.2548+44_2548+46dup
NM_000383.3:c.798+44_798+46dup	NP_000374.1:n.798+44_798+46dup
XM_011529551.1:c.798+44_798+46dup	XP_011527853.1:n.798+44_798+46dup
NM_000383.4:c.798+44_798+46dup MANE Select	NP_000374.1:n.798+44_798+46dup