Canonical Allele Identifier: CA2391566085

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288293_44288294delinsCT , CM000683.2:g.44288293_44288294delinsCT	GRCh38
NC_000021.8:g.45708176_45708177delinsCT , CM000683.1:g.45708176_45708177delinsCT	GRCh37
NC_000021.7:g.44532604_44532605delinsCT	NCBI36
NG_009556.1:g.7414_7415delinsCT , LRG_18:g.7414_7415delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.539-52_539-51delinsCT MANE Select	ENSP00000291582.5:n.539-52_539-51delinsCT
ENST00000291582.5:c.539-52_539-51delinsCT	ENSP00000291582.5:n.539-52_539-51delinsCT
ENST00000527919.5:n.1083-52_1083-51delinsCT
ENST00000530812.5:n.1091-52_1091-51delinsCT
NM_000383.3:c.539-52_539-51delinsCT	NP_000374.1:n.539-52_539-51delinsCT
XM_011529551.1:c.539-52_539-51delinsCT	XP_011527853.1:n.539-52_539-51delinsCT
NM_000383.4:c.539-52_539-51delinsCT MANE Select	NP_000374.1:n.539-52_539-51delinsCT