Canonical Allele Identifier: CA2654790032

Gene: AIRE

Linked Data

• gnomAD v4: 21-44292291-CACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292292_44292294del , CM000683.2:g.44292292_44292294del	GRCh38
NC_000021.8:g.45712175_45712177del , CM000683.1:g.45712175_45712177del	GRCh37
NC_000021.7:g.44536603_44536605del	NCBI36
NG_009556.1:g.11413_11415del , LRG_18:g.11413_11415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.996-10_996-8del MANE Select	ENSP00000291582.5:n.996-10_996-8del
ENST00000291582.5:c.996-10_996-8del	ENSP00000291582.5:n.996-10_996-8del
ENST00000337909.5:n.457-10_457-8del
ENST00000397994.8:n.457-10_457-8del
ENST00000527919.5:n.1726-10_1726-8del
ENST00000530812.5:n.2743-10_2743-8del
NM_000383.3:c.996-10_996-8del	NP_000374.1:n.996-10_996-8del
XM_011529551.1:c.993-10_993-8del	XP_011527853.1:n.993-10_993-8del
NM_000383.4:c.996-10_996-8del MANE Select	NP_000374.1:n.996-10_996-8del