Canonical Allele Identifier: CA2391569586

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44294515_44294516delinsAG , CM000683.2:g.44294515_44294516delinsAG	GRCh38
NC_000021.8:g.45714398_45714399delinsAG , CM000683.1:g.45714398_45714399delinsAG	GRCh37
NC_000021.7:g.44538826_44538827delinsAG	NCBI36
NG_009556.1:g.13636_13637delinsAG , LRG_18:g.13636_13637delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.1503+12_1503+13delinsAG MANE Select	ENSP00000291582.5:n.1503+12_1503+13delinsAG
ENST00000291582.5:c.1503+12_1503+13delinsAG	ENSP00000291582.5:n.1503+12_1503+13delinsAG
ENST00000337909.5:n.964+12_964+13delinsAG
ENST00000397994.8:n.882+12_882+13delinsAG
ENST00000527919.5:n.2262+12_2262+13delinsAG
ENST00000530812.5:n.3250+12_3250+13delinsAG
NM_000383.3:c.1503+12_1503+13delinsAG	NP_000374.1:n.1503+12_1503+13delinsAG
XM_011529551.1:c.1500+12_1500+13delinsAG	XP_011527853.1:n.1500+12_1500+13delinsAG
NM_000383.4:c.1503+12_1503+13delinsAG MANE Select	NP_000374.1:n.1503+12_1503+13delinsAG