Canonical Allele Identifier: CA2391567399

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290878_44290879delinsAG , CM000683.2:g.44290878_44290879delinsAG	GRCh38
NC_000021.8:g.45710761_45710762delinsAG , CM000683.1:g.45710761_45710762delinsAG	GRCh37
NC_000021.7:g.44535189_44535190delinsAG	NCBI36
NG_009556.1:g.9999_10000delinsAG , LRG_18:g.9999_10000delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-217_880-216delinsAG MANE Select	ENSP00000291582.5:n.880-217_880-216delinsAG
ENST00000291582.5:c.880-217_880-216delinsAG	ENSP00000291582.5:n.880-217_880-216delinsAG
ENST00000337909.5:n.124_125delinsAG
ENST00000397994.8:n.124_125delinsAG
ENST00000527919.5:n.1613-220_1613-219delinsAG
ENST00000530812.5:n.2630-220_2630-219delinsAG
NM_000383.3:c.880-217_880-216delinsAG	NP_000374.1:n.880-217_880-216delinsAG
XM_011529551.1:c.880-220_880-219delinsAG	XP_011527853.1:n.880-220_880-219delinsAG
NM_000383.4:c.880-217_880-216delinsAG MANE Select	NP_000374.1:n.880-217_880-216delinsAG