Canonical Allele Identifier: CA2654789180
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44287289-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287290del , CM000683.2:g.44287290del GRCh38
NC_000021.8:g.45707173del , CM000683.1:g.45707173del GRCh37
NC_000021.7:g.44531601del NCBI36
NG_009556.1:g.6411del , LRG_18:g.6411del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+157del MANE Select ENSP00000291582.5:n.463+157del
ENST00000291582.5:c.463+157del ENSP00000291582.5:n.463+157del
ENST00000527919.5:n.781del
ENST00000530812.5:n.789del
NM_000383.3:c.463+157del NP_000374.1:n.463+157del
XM_011529551.1:c.463+157del XP_011527853.1:n.463+157del
NM_000383.4:c.463+157del MANE Select NP_000374.1:n.463+157del
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