Canonical Allele Identifier: CA2391566120
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288343_44288345delinsAGG , CM000683.2:g.44288343_44288345delinsAGG GRCh38
NC_000021.8:g.45708226_45708228delinsAGG , CM000683.1:g.45708226_45708228delinsAGG GRCh37
NC_000021.7:g.44532654_44532656delinsAGG NCBI36
NG_009556.1:g.7464_7466delinsAGG , LRG_18:g.7464_7466delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.539-2_539delinsAGG
ENST00000291582.5:c.539-2_539delinsAGG
ENST00000527919.5:n.1083-2_1083delinsAGG
ENST00000530812.5:n.1091-2_1091delinsAGG
NM_000383.3:c.539-2_539delinsAGG
XM_011529551.1:c.539-2_539delinsAGG
NM_000383.4:c.539-2_539delinsAGG