Canonical Allele Identifier: CA2391566865

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289809_44289819delinsACCTGACCTTC , CM000683.2:g.44289809_44289819delinsACCTGACCTTC	GRCh38
NC_000021.8:g.45709692_45709702delinsACCTGACCTTC , CM000683.1:g.45709692_45709702delinsACCTGACCTTC	GRCh37
NC_000021.7:g.44534120_44534130delinsACCTGACCTTC	NCBI36
NG_009556.1:g.8930_8940delinsACCTGACCTTC , LRG_18:g.8930_8940delinsACCTGACCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.798+7_798+17delinsACCTGACCTTC MANE Select	ENSP00000291582.5:n.798+7_798+17delinsACCTGACCTTC
ENST00000291582.5:c.798+7_798+17delinsACCTGACCTTC	ENSP00000291582.5:n.798+7_798+17delinsACCTGACCTTC
ENST00000527919.5:n.1531+7_1531+17delinsACCTGACCTTC
ENST00000530812.5:n.2548+7_2548+17delinsACCTGACCTTC
NM_000383.3:c.798+7_798+17delinsACCTGACCTTC	NP_000374.1:n.798+7_798+17delinsACCTGACCTTC
XM_011529551.1:c.798+7_798+17delinsACCTGACCTTC	XP_011527853.1:n.798+7_798+17delinsACCTGACCTTC
NM_000383.4:c.798+7_798+17delinsACCTGACCTTC MANE Select	NP_000374.1:n.798+7_798+17delinsACCTGACCTTC