Canonical Allele Identifier: CA2840652125

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288419del , CM000683.2:g.44288419del	GRCh38
NC_000021.8:g.45708302del , CM000683.1:g.45708302del	GRCh37
NC_000021.7:g.44532730del	NCBI36
NG_009556.1:g.7540del , LRG_18:g.7540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.613del MANE Select	ENSP00000291582.5:p.Ala205ProfsTer?
ENST00000291582.5:c.613del	ENSP00000291582.5:p.Ala205ProfsTer?
ENST00000527919.5:n.1157del
ENST00000530812.5:n.1165del
NM_000383.3:c.613del	NP_000374.1:p.Ala205ProfsTer?
XM_011529551.1:c.613del	XP_011527853.1:p.Ala205ProfsTer?
NM_000383.4:c.613del MANE Select	NP_000374.1:p.Ala205ProfsTer?