Canonical Allele Identifier: CA2654793046

Gene: AIRE

Linked Data

• gnomAD v4: 21-44290230-CTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290232_44290234del , CM000683.2:g.44290232_44290234del	GRCh38
NC_000021.8:g.45710115_45710117del , CM000683.1:g.45710115_45710117del	GRCh37
NC_000021.7:g.44534543_44534545del	NCBI36
NG_009556.1:g.9353_9355del , LRG_18:g.9353_9355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.879+164_879+166del MANE Select	ENSP00000291582.5:n.879+164_879+166del
ENST00000291582.5:c.879+164_879+166del	ENSP00000291582.5:n.879+164_879+166del
ENST00000527919.5:n.1612+164_1612+166del
ENST00000530812.5:n.2629+164_2629+166del
NM_000383.3:c.879+164_879+166del	NP_000374.1:n.879+164_879+166del
XM_011529551.1:c.879+164_879+166del	XP_011527853.1:n.879+164_879+166del
NM_000383.4:c.879+164_879+166del MANE Select	NP_000374.1:n.879+164_879+166del