Canonical Allele Identifier: CA2577619914
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289802del , CM000683.2:g.44289802del GRCh38
NC_000021.8:g.45709685del , CM000683.1:g.45709685del GRCh37
NC_000021.7:g.44534113del NCBI36
NG_009556.1:g.8923del , LRG_18:g.8923del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.798del MANE Select ENSP00000291582.5:p.Gly267ValfsTer?
ENST00000291582.5:c.798del ENSP00000291582.5:p.Gly267ValfsTer?
ENST00000527919.5:n.1531del
ENST00000530812.5:n.2548del
NM_000383.3:c.798del NP_000374.1:p.Gly267ValfsTer?
XM_011529551.1:c.798del XP_011527853.1:p.Gly267ValfsTer?
NM_000383.4:c.798del MANE Select NP_000374.1:p.Gly267ValfsTer?