Canonical Allele Identifier: CA2654793024

Gene: AIRE

Linked Data

• gnomAD v4: 21-44290213-TAGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290216_44290219del , CM000683.2:g.44290216_44290219del	GRCh38
NC_000021.8:g.45710099_45710102del , CM000683.1:g.45710099_45710102del	GRCh37
NC_000021.7:g.44534527_44534530del	NCBI36
NG_009556.1:g.9337_9340del , LRG_18:g.9337_9340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.879+148_879+151del MANE Select	ENSP00000291582.5:n.879+148_879+151del
ENST00000291582.5:c.879+148_879+151del	ENSP00000291582.5:n.879+148_879+151del
ENST00000527919.5:n.1612+148_1612+151del
ENST00000530812.5:n.2629+148_2629+151del
NM_000383.3:c.879+148_879+151del	NP_000374.1:n.879+148_879+151del
XM_011529551.1:c.879+148_879+151del	XP_011527853.1:n.879+148_879+151del
NM_000383.4:c.879+148_879+151del MANE Select	NP_000374.1:n.879+148_879+151del