Canonical Allele Identifier: CA2654789378

Gene: AIRE

Linked Data

• gnomAD v4: 21-44287477-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44287481_44287482del , CM000683.2:g.44287481_44287482del	GRCh38
NC_000021.8:g.45707364_45707365del , CM000683.1:g.45707364_45707365del	GRCh37
NC_000021.7:g.44531792_44531793del	NCBI36
NG_009556.1:g.6602_6603del , LRG_18:g.6602_6603del

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.464-36_464-35del MANE Select	ENSP00000291582.5:n.464-36_464-35del
ENST00000291582.5:c.464-36_464-35del	ENSP00000291582.5:n.464-36_464-35del
ENST00000527919.5:n.972_973del
ENST00000530812.5:n.980_981del
NM_000383.3:c.464-36_464-35del	NP_000374.1:n.464-36_464-35del
XM_011529551.1:c.464-36_464-35del	XP_011527853.1:n.464-36_464-35del
NM_000383.4:c.464-36_464-35del MANE Select	NP_000374.1:n.464-36_464-35del