Canonical Allele Identifier: CA2391566244

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288601_44288605delinsGCTGA , CM000683.2:g.44288601_44288605delinsGCTGA	GRCh38
NC_000021.8:g.45708484_45708488delinsGCTGA , CM000683.1:g.45708484_45708488delinsGCTGA	GRCh37
NC_000021.7:g.44532912_44532916delinsGCTGA	NCBI36
NG_009556.1:g.7722_7726delinsGCTGA , LRG_18:g.7722_7726delinsGCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+143_652+147delinsGCTGA MANE Select	ENSP00000291582.5:n.652+143_652+147delinsGCTGA
ENST00000291582.5:c.652+143_652+147delinsGCTGA	ENSP00000291582.5:n.652+143_652+147delinsGCTGA
ENST00000527919.5:n.1196+143_1196+147delinsGCTGA
ENST00000530812.5:n.1347_1351delinsGCTGA
NM_000383.3:c.652+143_652+147delinsGCTGA	NP_000374.1:n.652+143_652+147delinsGCTGA
XM_011529551.1:c.652+143_652+147delinsGCTGA	XP_011527853.1:n.652+143_652+147delinsGCTGA
NM_000383.4:c.652+143_652+147delinsGCTGA MANE Select	NP_000374.1:n.652+143_652+147delinsGCTGA