Canonical Allele Identifier: CA2654791986

Gene: AIRE

Linked Data

• gnomAD v4: 21-44289727-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289730del , CM000683.2:g.44289730del	GRCh38
NC_000021.8:g.45709613del , CM000683.1:g.45709613del	GRCh37
NC_000021.7:g.44534041del	NCBI36
NG_009556.1:g.8851del , LRG_18:g.8851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.726del MANE Select	ENSP00000291582.5:p.Lys243ArgfsTer?
ENST00000291582.5:c.726del	ENSP00000291582.5:p.Lys243ArgfsTer?
ENST00000527919.5:n.1459del
ENST00000530812.5:n.2476del
NM_000383.3:c.726del	NP_000374.1:p.Lys243ArgfsTer?
XM_011529551.1:c.726del	XP_011527853.1:p.Lys243ArgfsTer?
NM_000383.4:c.726del MANE Select	NP_000374.1:p.Lys243ArgfsTer?