Canonical Allele Identifier: CA2739267688

Gene: AIRE

Linked Data

• ClinVar Variation Id: 2793920
• ClinVar RCV Id: RCV003636306

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289772del , CM000683.2:g.44289772del	GRCh38
NC_000021.8:g.45709655del , CM000683.1:g.45709655del	GRCh37
NC_000021.7:g.44534083del	NCBI36
NG_009556.1:g.8893del , LRG_18:g.8893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.768del MANE Select	ENSP00000291582.5:p.Arg257GlufsTer?
ENST00000291582.5:c.768del	ENSP00000291582.5:p.Arg257GlufsTer?
ENST00000527919.5:n.1501del
ENST00000530812.5:n.2518del
NM_000383.3:c.768del	NP_000374.1:p.Arg257GlufsTer?
XM_011529551.1:c.768del	XP_011527853.1:p.Arg257GlufsTer?
NM_000383.4:c.768del MANE Select	NP_000374.1:p.Arg257GlufsTer?