Canonical Allele Identifier: CA2391568132
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292306_44292307delinsAC , CM000683.2:g.44292306_44292307delinsAC GRCh38
NC_000021.8:g.45712189_45712190delinsAC , CM000683.1:g.45712189_45712190delinsAC GRCh37
NC_000021.7:g.44536617_44536618delinsAC NCBI36
NG_009556.1:g.11427_11428delinsAC , LRG_18:g.11427_11428delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1000_1001delinsAC MANE Select ENSP00000291582.5:p.Thr334=
ENST00000291582.5:c.1000_1001delinsAC ENSP00000291582.5:p.Thr334=
ENST00000337909.5:n.461_462delinsAC
ENST00000397994.8:n.461_462delinsAC
ENST00000527919.5:n.1730_1731delinsAC
ENST00000530812.5:n.2747_2748delinsAC
NM_000383.3:c.1000_1001delinsAC NP_000374.1:p.Thr334=
XM_011529551.1:c.997_998delinsAC XP_011527853.1:p.Thr333=
NM_000383.4:c.1000_1001delinsAC MANE Select NP_000374.1:p.Thr334=
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