Canonical Allele Identifier: CA2654790232

Gene: AIRE

Linked Data

• gnomAD v4: 21-44288811-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288813dup , CM000683.2:g.44288813dup	GRCh38
NC_000021.8:g.45708696dup , CM000683.1:g.45708696dup	GRCh37
NC_000021.7:g.44533124dup	NCBI36
NG_009556.1:g.7934dup , LRG_18:g.7934dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+355dup MANE Select	ENSP00000291582.5:n.652+355dup
ENST00000291582.5:c.652+355dup	ENSP00000291582.5:n.652+355dup
ENST00000527919.5:n.1196+355dup
ENST00000530812.5:n.1559dup
NM_000383.3:c.652+355dup	NP_000374.1:n.652+355dup
XM_011529551.1:c.652+355dup	XP_011527853.1:n.652+355dup
NM_000383.4:c.652+355dup MANE Select	NP_000374.1:n.652+355dup