Canonical Allele Identifier: CA2654792202

Gene: AIRE

Linked Data

• gnomAD v4: 21-44289871-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289876dup , CM000683.2:g.44289876dup	GRCh38
NC_000021.8:g.45709759dup , CM000683.1:g.45709759dup	GRCh37
NC_000021.7:g.44534187dup	NCBI36
NG_009556.1:g.8997dup , LRG_18:g.8997dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.798+74dup MANE Select	ENSP00000291582.5:n.798+74dup
ENST00000291582.5:c.798+74dup	ENSP00000291582.5:n.798+74dup
ENST00000527919.5:n.1531+74dup
ENST00000530812.5:n.2548+74dup
NM_000383.3:c.798+74dup	NP_000374.1:n.798+74dup
XM_011529551.1:c.798+74dup	XP_011527853.1:n.798+74dup
NM_000383.4:c.798+74dup MANE Select	NP_000374.1:n.798+74dup