Canonical Allele Identifier: CA2654791967
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44289712-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289713del , CM000683.2:g.44289713del GRCh38
NC_000021.8:g.45709596del , CM000683.1:g.45709596del GRCh37
NC_000021.7:g.44534024del NCBI36
NG_009556.1:g.8834del , LRG_18:g.8834del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.709del MANE Select ENSP00000291582.5:p.Glu237LysfsTer?
ENST00000291582.5:c.709del ENSP00000291582.5:p.Glu237LysfsTer?
ENST00000527919.5:n.1442del
ENST00000530812.5:n.2459del
NM_000383.3:c.709del NP_000374.1:p.Glu237LysfsTer?
XM_011529551.1:c.709del XP_011527853.1:p.Glu237LysfsTer?
NM_000383.4:c.709del MANE Select NP_000374.1:p.Glu237LysfsTer?
Search 100 bp 5'
Search 100 bp 3'