Canonical Allele Identifier: CA2654792780

Gene: AIRE

Linked Data

• gnomAD v4: 21-44290079-AGACCACAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290082_44290089del , CM000683.2:g.44290082_44290089del	GRCh38
NC_000021.8:g.45709965_45709972del , CM000683.1:g.45709965_45709972del	GRCh37
NC_000021.7:g.44534393_44534400del	NCBI36
NG_009556.1:g.9203_9210del , LRG_18:g.9203_9210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.879+14_879+21del MANE Select	ENSP00000291582.5:n.879+14_879+21del
ENST00000291582.5:c.879+14_879+21del	ENSP00000291582.5:n.879+14_879+21del
ENST00000527919.5:n.1612+14_1612+21del
ENST00000530812.5:n.2629+14_2629+21del
NM_000383.3:c.879+14_879+21del	NP_000374.1:n.879+14_879+21del
XM_011529551.1:c.879+14_879+21del	XP_011527853.1:n.879+14_879+21del
NM_000383.4:c.879+14_879+21del MANE Select	NP_000374.1:n.879+14_879+21del