Canonical Allele Identifier: CA1022714162

Gene: AIRE

Linked Data

• dbSNP Id: rs2040492026
• gnomAD v4: 21-44287257-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44287262del , CM000683.2:g.44287262del	GRCh38
NC_000021.8:g.45707145del , CM000683.1:g.45707145del	GRCh37
NC_000021.7:g.44531573del	NCBI36
NG_009556.1:g.6383del , LRG_18:g.6383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.463+129del MANE Select	ENSP00000291582.5:n.463+129del
ENST00000291582.5:c.463+129del	ENSP00000291582.5:n.463+129del
ENST00000527919.5:n.753del
ENST00000530812.5:n.761del
NM_000383.3:c.463+129del	NP_000374.1:n.463+129del
XM_011529551.1:c.463+129del	XP_011527853.1:n.463+129del
NM_000383.4:c.463+129del MANE Select	NP_000374.1:n.463+129del