Canonical Allele Identifier: CA2654792943

Gene: AIRE

Linked Data

• gnomAD v4: 21-44290155-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290156_44290157del , CM000683.2:g.44290156_44290157del	GRCh38
NC_000021.8:g.45710039_45710040del , CM000683.1:g.45710039_45710040del	GRCh37
NC_000021.7:g.44534467_44534468del	NCBI36
NG_009556.1:g.9277_9278del , LRG_18:g.9277_9278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.879+88_879+89del MANE Select	ENSP00000291582.5:n.879+88_879+89del
ENST00000291582.5:c.879+88_879+89del	ENSP00000291582.5:n.879+88_879+89del
ENST00000527919.5:n.1612+88_1612+89del
ENST00000530812.5:n.2629+88_2629+89del
NM_000383.3:c.879+88_879+89del	NP_000374.1:n.879+88_879+89del
XM_011529551.1:c.879+88_879+89del	XP_011527853.1:n.879+88_879+89del
NM_000383.4:c.879+88_879+89del MANE Select	NP_000374.1:n.879+88_879+89del