Canonical Allele Identifier: CA2654790260

Gene: AIRE

Linked Data

• gnomAD v4: 21-44288842-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288848dup , CM000683.2:g.44288848dup	GRCh38
NC_000021.8:g.45708731dup , CM000683.1:g.45708731dup	GRCh37
NC_000021.7:g.44533159dup	NCBI36
NG_009556.1:g.7969dup , LRG_18:g.7969dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+390dup MANE Select	ENSP00000291582.5:n.652+390dup
ENST00000291582.5:c.652+390dup	ENSP00000291582.5:n.652+390dup
ENST00000527919.5:n.1197-380dup
ENST00000530812.5:n.1594dup
NM_000383.3:c.652+390dup	NP_000374.1:n.652+390dup
XM_011529551.1:c.652+390dup	XP_011527853.1:n.652+390dup
NM_000383.4:c.652+390dup MANE Select	NP_000374.1:n.652+390dup