Canonical Allele Identifier: CA2577619913

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289766_44289778del , CM000683.2:g.44289766_44289778del	GRCh38
NC_000021.8:g.45709649_45709661del , CM000683.1:g.45709649_45709661del	GRCh37
NC_000021.7:g.44534077_44534089del	NCBI36
NG_009556.1:g.8887_8899del , LRG_18:g.8887_8899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.762_774del MANE Select	ENSP00000291582.5:p.Leu255ArgfsTer?
ENST00000291582.5:c.762_774del	ENSP00000291582.5:p.Leu255ArgfsTer?
ENST00000527919.5:n.1495_1507del
ENST00000530812.5:n.2512_2524del
NM_000383.3:c.762_774del	NP_000374.1:p.Leu255ArgfsTer?
XM_011529551.1:c.762_774del	XP_011527853.1:p.Leu255ArgfsTer?
NM_000383.4:c.762_774del MANE Select	NP_000374.1:p.Leu255ArgfsTer?