Canonical Allele Identifier: CA2654789899

Gene: AIRE

Linked Data

• gnomAD v4: 21-44292225-A-AGCTCCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292231_44292232insGGGCTCCA , CM000683.2:g.44292231_44292232insGGGCTCCA	GRCh38
NC_000021.8:g.45712114_45712115insGGGCTCCA , CM000683.1:g.45712114_45712115insGGGCTCCA	GRCh37
NC_000021.7:g.44536542_44536543insGGGCTCCA	NCBI36
NG_009556.1:g.11352_11353insGGGCTCCA , LRG_18:g.11352_11353insGGGCTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.996-71_996-70insGGGCTCCA MANE Select	ENSP00000291582.5:n.996-71_996-70insGGGCTCCA
ENST00000291582.5:c.996-71_996-70insGGGCTCCA	ENSP00000291582.5:n.996-71_996-70insGGGCTCCA
ENST00000337909.5:n.457-71_457-70insGGGCTCCA
ENST00000397994.8:n.457-71_457-70insGGGCTCCA
ENST00000527919.5:n.1726-71_1726-70insGGGCTCCA
ENST00000530812.5:n.2743-71_2743-70insGGGCTCCA
NM_000383.3:c.996-71_996-70insGGGCTCCA	NP_000374.1:n.996-71_996-70insGGGCTCCA
XM_011529551.1:c.993-71_993-70insGGGCTCCA	XP_011527853.1:n.993-71_993-70insGGGCTCCA
NM_000383.4:c.996-71_996-70insGGGCTCCA MANE Select	NP_000374.1:n.996-71_996-70insGGGCTCCA