Canonical Allele Identifier: CA2577620046

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44291048_44291063del , CM000683.2:g.44291048_44291063del	GRCh38
NC_000021.8:g.45710931_45710946del , CM000683.1:g.45710931_45710946del	GRCh37
NC_000021.7:g.44535359_44535374del	NCBI36
NG_009556.1:g.10169_10184del , LRG_18:g.10169_10184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-47_880-32del MANE Select	ENSP00000291582.5:n.880-47_880-32del
ENST00000291582.5:c.880-47_880-32del	ENSP00000291582.5:n.880-47_880-32del
ENST00000337909.5:n.294_309del
ENST00000397994.8:n.294_309del
ENST00000527919.5:n.1613-50_1613-35del
ENST00000530812.5:n.2630-50_2630-35del
NM_000383.3:c.880-47_880-32del	NP_000374.1:n.880-47_880-32del
XM_011529551.1:c.880-50_880-35del	XP_011527853.1:n.880-50_880-35del
NM_000383.4:c.880-47_880-32del MANE Select	NP_000374.1:n.880-47_880-32del