Canonical Allele Identifier: CA2391569570
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44294486_44294487delinsGC , CM000683.2:g.44294486_44294487delinsGC GRCh38
NC_000021.8:g.45714369_45714370delinsGC , CM000683.1:g.45714369_45714370delinsGC GRCh37
NC_000021.7:g.44538797_44538798delinsGC NCBI36
NG_009556.1:g.13607_13608delinsGC , LRG_18:g.13607_13608delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1486_1487delinsGC MANE Select ENSP00000291582.5:p.Ala496=
ENST00000291582.5:c.1486_1487delinsGC ENSP00000291582.5:p.Ala496=
ENST00000337909.5:n.947_948delinsGC
ENST00000397994.8:n.865_866delinsGC
ENST00000527919.5:n.2245_2246delinsGC
ENST00000530812.5:n.3233_3234delinsGC
NM_000383.3:c.1486_1487delinsGC NP_000374.1:p.Ala496=
XM_011529551.1:c.1483_1484delinsGC XP_011527853.1:p.Ala495=
NM_000383.4:c.1486_1487delinsGC MANE Select NP_000374.1:p.Ala496=
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