Canonical Allele Identifier: CA2654789167
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44287280-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287283del , CM000683.2:g.44287283del GRCh38
NC_000021.8:g.45707166del , CM000683.1:g.45707166del GRCh37
NC_000021.7:g.44531594del NCBI36
NG_009556.1:g.6404del , LRG_18:g.6404del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+150del MANE Select ENSP00000291582.5:n.463+150del
ENST00000291582.5:c.463+150del ENSP00000291582.5:n.463+150del
ENST00000527919.5:n.774del
ENST00000530812.5:n.782del
NM_000383.3:c.463+150del NP_000374.1:n.463+150del
XM_011529551.1:c.463+150del XP_011527853.1:n.463+150del
NM_000383.4:c.463+150del MANE Select NP_000374.1:n.463+150del
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