Canonical Allele Identifier: CA2391566362

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288842_44288843delinsGC , CM000683.2:g.44288842_44288843delinsGC	GRCh38
NC_000021.8:g.45708725_45708726delinsGC , CM000683.1:g.45708725_45708726delinsGC	GRCh37
NC_000021.7:g.44533153_44533154delinsGC	NCBI36
NG_009556.1:g.7963_7964delinsGC , LRG_18:g.7963_7964delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+384_652+385delinsGC MANE Select	ENSP00000291582.5:n.652+384_652+385delinsGC
ENST00000291582.5:c.652+384_652+385delinsGC	ENSP00000291582.5:n.652+384_652+385delinsGC
ENST00000527919.5:n.1196+384_1197-385delinsGC
ENST00000530812.5:n.1588_1589delinsGC
NM_000383.3:c.652+384_652+385delinsGC	NP_000374.1:n.652+384_652+385delinsGC
XM_011529551.1:c.652+384_652+385delinsGC	XP_011527853.1:n.652+384_652+385delinsGC
NM_000383.4:c.652+384_652+385delinsGC MANE Select	NP_000374.1:n.652+384_652+385delinsGC