Canonical Allele Identifier: CA2654790021

Gene: AIRE

Linked Data

• gnomAD v4: 21-44292288-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292289_44292290del , CM000683.2:g.44292289_44292290del	GRCh38
NC_000021.8:g.45712172_45712173del , CM000683.1:g.45712172_45712173del	GRCh37
NC_000021.7:g.44536600_44536601del	NCBI36
NG_009556.1:g.11410_11411del , LRG_18:g.11410_11411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.996-13_996-12del MANE Select	ENSP00000291582.5:n.996-13_996-12del
ENST00000291582.5:c.996-13_996-12del	ENSP00000291582.5:n.996-13_996-12del
ENST00000337909.5:n.457-13_457-12del
ENST00000397994.8:n.457-13_457-12del
ENST00000527919.5:n.1726-13_1726-12del
ENST00000530812.5:n.2743-13_2743-12del
NM_000383.3:c.996-13_996-12del	NP_000374.1:n.996-13_996-12del
XM_011529551.1:c.993-13_993-12del	XP_011527853.1:n.993-13_993-12del
NM_000383.4:c.996-13_996-12del MANE Select	NP_000374.1:n.996-13_996-12del