Canonical Allele Identifier: CA1022714385

Gene: AIRE

Linked Data

• gnomAD v3: 21-44289685-CGG-C
• gnomAD v4: 21-44289685-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289688_44289689del , CM000683.2:g.44289688_44289689del	GRCh38
NC_000021.8:g.45709571_45709572del , CM000683.1:g.45709571_45709572del	GRCh37
NC_000021.7:g.44533999_44534000del	NCBI36
NG_009556.1:g.8809_8810del , LRG_18:g.8809_8810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.684_685del MANE Select	ENSP00000291582.5:p.Glu229ValfsTer?
ENST00000291582.5:c.684_685del	ENSP00000291582.5:p.Glu229ValfsTer?
ENST00000527919.5:n.1417_1418del
ENST00000530812.5:n.2434_2435del
NM_000383.3:c.684_685del	NP_000374.1:p.Glu229ValfsTer?
XM_011529551.1:c.684_685del	XP_011527853.1:p.Glu229ValfsTer?
NM_000383.4:c.684_685del MANE Select	NP_000374.1:p.Glu229ValfsTer?