Canonical Allele Identifier: CA2573157694

Gene: AIRE

Linked Data

• ClinVar Variation Id: 1359526
• ClinVar RCV Id: RCV001904436
• dbSNP Id: rs2146379725
• gnomAD v4: 21-44290052-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290057del , CM000683.2:g.44290057del	GRCh38
NC_000021.8:g.45709940del , CM000683.1:g.45709940del	GRCh37
NC_000021.7:g.44534368del	NCBI36
NG_009556.1:g.9178del , LRG_18:g.9178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.868del MANE Select	ENSP00000291582.5:p.Gln290SerfsTer?
ENST00000291582.5:c.868del	ENSP00000291582.5:p.Gln290SerfsTer?
ENST00000527919.5:n.1601del
ENST00000530812.5:n.2618del
NM_000383.3:c.868del	NP_000374.1:p.Gln290SerfsTer?
XM_011529551.1:c.868del	XP_011527853.1:p.Gln290SerfsTer?
NM_000383.4:c.868del MANE Select	NP_000374.1:p.Gln290SerfsTer?