Canonical Allele Identifier: CA2654793017

Gene: AIRE

Linked Data

• gnomAD v4: 21-44290210-TAATAGACAGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290211_44290221del , CM000683.2:g.44290211_44290221del	GRCh38
NC_000021.8:g.45710094_45710104del , CM000683.1:g.45710094_45710104del	GRCh37
NC_000021.7:g.44534522_44534532del	NCBI36
NG_009556.1:g.9332_9342del , LRG_18:g.9332_9342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.879+143_879+153del MANE Select	ENSP00000291582.5:n.879+143_879+153del
ENST00000291582.5:c.879+143_879+153del	ENSP00000291582.5:n.879+143_879+153del
ENST00000527919.5:n.1612+143_1612+153del
ENST00000530812.5:n.2629+143_2629+153del
NM_000383.3:c.879+143_879+153del	NP_000374.1:n.879+143_879+153del
XM_011529551.1:c.879+143_879+153del	XP_011527853.1:n.879+143_879+153del
NM_000383.4:c.879+143_879+153del MANE Select	NP_000374.1:n.879+143_879+153del