Canonical Allele Identifier: CA920315953

Gene: AIRE

Linked Data

• dbSNP Id: rs1601966563

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289693del , CM000683.2:g.44289693del	GRCh38
NC_000021.8:g.45709576del , CM000683.1:g.45709576del	GRCh37
NC_000021.7:g.44534004del	NCBI36
NG_009556.1:g.8814del , LRG_18:g.8814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.689del MANE Select	ENSP00000291582.5:p.Phe230SerfsTer?
ENST00000291582.5:c.689del	ENSP00000291582.5:p.Phe230SerfsTer?
ENST00000527919.5:n.1422del
ENST00000530812.5:n.2439del
NM_000383.3:c.689del	NP_000374.1:p.Phe230SerfsTer?
XM_011529551.1:c.689del	XP_011527853.1:p.Phe230SerfsTer?
NM_000383.4:c.689del MANE Select	NP_000374.1:p.Phe230SerfsTer?