Canonical Allele Identifier: CA2654789186
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44287297-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287299del , CM000683.2:g.44287299del GRCh38
NC_000021.8:g.45707182del , CM000683.1:g.45707182del GRCh37
NC_000021.7:g.44531610del NCBI36
NG_009556.1:g.6420del , LRG_18:g.6420del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+166del MANE Select ENSP00000291582.5:n.463+166del
ENST00000291582.5:c.463+166del ENSP00000291582.5:n.463+166del
ENST00000527919.5:n.790del
ENST00000530812.5:n.798del
NM_000383.3:c.463+166del NP_000374.1:n.463+166del
XM_011529551.1:c.463+166del XP_011527853.1:n.463+166del
NM_000383.4:c.463+166del MANE Select NP_000374.1:n.463+166del
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