Canonical Allele Identifier: CA2391566156

Gene: AIRE

Linked Data

• dbSNP Id: rs2040503495

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288413del , CM000683.2:g.44288413del	GRCh38
NC_000021.8:g.45708296del , CM000683.1:g.45708296del	GRCh37
NC_000021.7:g.44532724del	NCBI36
NG_009556.1:g.7534del , LRG_18:g.7534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.607del MANE Select	ENSP00000291582.5:p.Arg203GlufsTer?
ENST00000291582.5:c.607del	ENSP00000291582.5:p.Arg203GlufsTer?
ENST00000527919.5:n.1151del
ENST00000530812.5:n.1159del
NM_000383.3:c.607del	NP_000374.1:p.Arg203GlufsTer?
XM_011529551.1:c.607del	XP_011527853.1:p.Arg203GlufsTer?
NM_000383.4:c.607del MANE Select	NP_000374.1:p.Arg203GlufsTer?