Canonical Allele Identifier: CA2577620224

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44294583_44294584del , CM000683.2:g.44294583_44294584del	GRCh38
NC_000021.8:g.45714466_45714467del , CM000683.1:g.45714466_45714467del	GRCh37
NC_000021.7:g.44538894_44538895del	NCBI36
NG_009556.1:g.13704_13705del , LRG_18:g.13704_13705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.1503+80_1503+81del MANE Select	ENSP00000291582.5:n.1503+80_1503+81del
ENST00000291582.5:c.1503+80_1503+81del	ENSP00000291582.5:n.1503+80_1503+81del
ENST00000337909.5:n.964+80_964+81del
ENST00000397994.8:n.882+80_882+81del
ENST00000527919.5:n.2262+80_2262+81del
ENST00000530812.5:n.3250+80_3250+81del
NM_000383.3:c.1503+80_1503+81del	NP_000374.1:n.1503+80_1503+81del
XM_011529551.1:c.1500+80_1500+81del	XP_011527853.1:n.1500+80_1500+81del
NM_000383.4:c.1503+80_1503+81del MANE Select	NP_000374.1:n.1503+80_1503+81del