Canonical Allele Identifier: CA2695230252
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289743del , CM000683.2:g.44289743del GRCh38
NC_000021.8:g.45709626del , CM000683.1:g.45709626del GRCh37
NC_000021.7:g.44534054del NCBI36
NG_009556.1:g.8864del , LRG_18:g.8864del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.739del MANE Select ENSP00000291582.5:p.Arg247AlafsTer?
ENST00000291582.5:c.739del ENSP00000291582.5:p.Arg247AlafsTer?
ENST00000527919.5:n.1472del
ENST00000530812.5:n.2489del
NM_000383.3:c.739del NP_000374.1:p.Arg247AlafsTer?
XM_011529551.1:c.739del XP_011527853.1:p.Arg247AlafsTer?
NM_000383.4:c.739del MANE Select NP_000374.1:p.Arg247AlafsTer?
Search 100 bp 5'
Search 100 bp 3'