Canonical Allele Identifier: CA2391568198

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292403_44292445delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC , CM000683.2:g.44292403_44292445delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC	GRCh38
NC_000021.8:g.45712286_45712328delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC , CM000683.1:g.45712286_45712328delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC	GRCh37
NC_000021.7:g.44536714_44536756delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC	NCBI36
NG_009556.1:g.11524_11566delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC , LRG_18:g.11524_11566delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.1095+2_1095+44delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC MANE Select	ENSP00000291582.5:n.1095+2_1095+44delinsTATGGCCACGCCCCCTCCTAG...
ENST00000291582.5:c.1095+2_1095+44delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC	ENSP00000291582.5:n.1095+2_1095+44delinsTATGGCCACGCCCCCTCCTAG...
ENST00000337909.5:n.556+2_556+44delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC
ENST00000397994.8:n.556+2_556+44delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC
ENST00000527919.5:n.1825+2_1825+44delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC
ENST00000530812.5:n.2842+2_2842+44delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC
NM_000383.3:c.1095+2_1095+44delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC	NP_000374.1:n.1095+2_1095+44delinsTATGGCCACGCCCCCTCCTAGCCGGGC...
XM_011529551.1:c.1092+2_1092+44delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC	XP_011527853.1:n.1092+2_1092+44delinsTATGGCCACGCCCCCTCCTAGCCG...
NM_000383.4:c.1095+2_1095+44delinsTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCAC MANE Select	NP_000374.1:n.1095+2_1095+44delinsTATGGCCACGCCCCCTCCTAGCCGGGC...