Canonical Allele Identifier: CA2391567090

Gene: AIRE

Linked Data

• dbSNP Id: rs2040522743

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290231del , CM000683.2:g.44290231del	GRCh38
NC_000021.8:g.45710114del , CM000683.1:g.45710114del	GRCh37
NC_000021.7:g.44534542del	NCBI36
NG_009556.1:g.9352del , LRG_18:g.9352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.879+163del MANE Select	ENSP00000291582.5:n.879+163del
ENST00000291582.5:c.879+163del	ENSP00000291582.5:n.879+163del
ENST00000527919.5:n.1612+163del
ENST00000530812.5:n.2629+163del
NM_000383.3:c.879+163del	NP_000374.1:n.879+163del
XM_011529551.1:c.879+163del	XP_011527853.1:n.879+163del
NM_000383.4:c.879+163del MANE Select	NP_000374.1:n.879+163del