Canonical Allele Identifier: CA2654793003

Gene: AIRE

Linked Data

• gnomAD v4: 21-44290201-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290205_44290206del , CM000683.2:g.44290205_44290206del	GRCh38
NC_000021.8:g.45710088_45710089del , CM000683.1:g.45710088_45710089del	GRCh37
NC_000021.7:g.44534516_44534517del	NCBI36
NG_009556.1:g.9326_9327del , LRG_18:g.9326_9327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.879+137_879+138del MANE Select	ENSP00000291582.5:n.879+137_879+138del
ENST00000291582.5:c.879+137_879+138del	ENSP00000291582.5:n.879+137_879+138del
ENST00000527919.5:n.1612+137_1612+138del
ENST00000530812.5:n.2629+137_2629+138del
NM_000383.3:c.879+137_879+138del	NP_000374.1:n.879+137_879+138del
XM_011529551.1:c.879+137_879+138del	XP_011527853.1:n.879+137_879+138del
NM_000383.4:c.879+137_879+138del MANE Select	NP_000374.1:n.879+137_879+138del