Canonical Allele Identifier: CA2577620205
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44294486del , CM000683.2:g.44294486del GRCh38
NC_000021.8:g.45714369del , CM000683.1:g.45714369del GRCh37
NC_000021.7:g.44538797del NCBI36
NG_009556.1:g.13607del , LRG_18:g.13607del

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1486del MANE Select ENSP00000291582.5:p.Ala496ProfsTer25
ENST00000291582.5:c.1486del ENSP00000291582.5:p.Ala496ProfsTer25
ENST00000337909.5:n.947del
ENST00000397994.8:n.865del
ENST00000527919.5:n.2245del
ENST00000530812.5:n.3233del
NM_000383.3:c.1486del NP_000374.1:p.Ala496ProfsTer25
XM_011529551.1:c.1483del XP_011527853.1:p.Ala495ProfsTer25
NM_000383.4:c.1486del MANE Select NP_000374.1:p.Ala496ProfsTer25
Search 100 bp 5'
Search 100 bp 3'