Canonical Allele Identifier: CA2577619749

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44287181del , CM000683.2:g.44287181del	GRCh38
NC_000021.8:g.45707064del , CM000683.1:g.45707064del	GRCh37
NC_000021.7:g.44531492del	NCBI36
NG_009556.1:g.6302del , LRG_18:g.6302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.463+48del MANE Select	ENSP00000291582.5:n.463+48del
ENST00000291582.5:c.463+48del	ENSP00000291582.5:n.463+48del
ENST00000527919.5:n.672del
ENST00000530812.5:n.680del
NM_000383.3:c.463+48del	NP_000374.1:n.463+48del
XM_011529551.1:c.463+48del	XP_011527853.1:n.463+48del
NM_000383.4:c.463+48del MANE Select	NP_000374.1:n.463+48del