Canonical Allele Identifier: CA2577619943
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290046_44290047del , CM000683.2:g.44290046_44290047del GRCh38
NC_000021.8:g.45709929_45709930del , CM000683.1:g.45709929_45709930del GRCh37
NC_000021.7:g.44534357_44534358del NCBI36
NG_009556.1:g.9167_9168del , LRG_18:g.9167_9168del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.857_858del MANE Select ENSP00000291582.5:p.Pro286GlnfsTer2
ENST00000291582.5:c.857_858del ENSP00000291582.5:p.Pro286GlnfsTer2
ENST00000527919.5:n.1590_1591del
ENST00000530812.5:n.2607_2608del
NM_000383.3:c.857_858del NP_000374.1:p.Pro286GlnfsTer2
XM_011529551.1:c.857_858del XP_011527853.1:p.Pro286GlnfsTer2
NM_000383.4:c.857_858del MANE Select NP_000374.1:p.Pro286GlnfsTer2
Search 100 bp 5'
Search 100 bp 3'