Canonical Allele Identifier: CA2391568205

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292412_44292413delinsGC , CM000683.2:g.44292412_44292413delinsGC	GRCh38
NC_000021.8:g.45712295_45712296delinsGC , CM000683.1:g.45712295_45712296delinsGC	GRCh37
NC_000021.7:g.44536723_44536724delinsGC	NCBI36
NG_009556.1:g.11533_11534delinsGC , LRG_18:g.11533_11534delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1095+11_1095+12delinsGC MANE Select	ENSP00000291582.5:n.1095+11_1095+12delinsGC
ENST00000291582.5:c.1095+11_1095+12delinsGC	ENSP00000291582.5:n.1095+11_1095+12delinsGC
ENST00000337909.5:n.556+11_556+12delinsGC
ENST00000397994.8:n.556+11_556+12delinsGC
ENST00000527919.5:n.1825+11_1825+12delinsGC
ENST00000530812.5:n.2842+11_2842+12delinsGC
NM_000383.3:c.1095+11_1095+12delinsGC	NP_000374.1:n.1095+11_1095+12delinsGC
XM_011529551.1:c.1092+11_1092+12delinsGC	XP_011527853.1:n.1092+11_1092+12delinsGC
NM_000383.4:c.1095+11_1095+12delinsGC MANE Select	NP_000374.1:n.1095+11_1095+12delinsGC