Canonical Allele Identifier: CA2391566091

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288307_44288308delinsTC , CM000683.2:g.44288307_44288308delinsTC	GRCh38
NC_000021.8:g.45708190_45708191delinsTC , CM000683.1:g.45708190_45708191delinsTC	GRCh37
NC_000021.7:g.44532618_44532619delinsTC	NCBI36
NG_009556.1:g.7428_7429delinsTC , LRG_18:g.7428_7429delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.539-38_539-37delinsTC MANE Select	ENSP00000291582.5:n.539-38_539-37delinsTC
ENST00000291582.5:c.539-38_539-37delinsTC	ENSP00000291582.5:n.539-38_539-37delinsTC
ENST00000527919.5:n.1083-38_1083-37delinsTC
ENST00000530812.5:n.1091-38_1091-37delinsTC
NM_000383.3:c.539-38_539-37delinsTC	NP_000374.1:n.539-38_539-37delinsTC
XM_011529551.1:c.539-38_539-37delinsTC	XP_011527853.1:n.539-38_539-37delinsTC
NM_000383.4:c.539-38_539-37delinsTC MANE Select	NP_000374.1:n.539-38_539-37delinsTC