Canonical Allele Identifier: CA2577619951
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290115del , CM000683.2:g.44290115del GRCh38
NC_000021.8:g.45709998del , CM000683.1:g.45709998del GRCh37
NC_000021.7:g.44534426del NCBI36
NG_009556.1:g.9236del , LRG_18:g.9236del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+47del MANE Select ENSP00000291582.5:n.879+47del
ENST00000291582.5:c.879+47del ENSP00000291582.5:n.879+47del
ENST00000527919.5:n.1612+47del
ENST00000530812.5:n.2629+47del
NM_000383.3:c.879+47del NP_000374.1:n.879+47del
XM_011529551.1:c.879+47del XP_011527853.1:n.879+47del
NM_000383.4:c.879+47del MANE Select NP_000374.1:n.879+47del