Canonical Allele Identifier: CA2577620249
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296478del , CM000683.2:g.44296478del GRCh38
NC_000021.8:g.45716361del , CM000683.1:g.45716361del GRCh37
NC_000021.7:g.44540789del NCBI36
NG_009556.1:g.15599del , LRG_18:g.15599del
NG_034033.1:g.1445del

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1566+33del MANE Select ENSP00000291582.5:n.1566+33del
ENST00000291582.5:c.1566+33del ENSP00000291582.5:n.1566+33del
ENST00000337909.5:n.1027+33del
ENST00000397994.8:n.945+33del
ENST00000527919.5:n.2325+33del
ENST00000530812.5:n.3313+33del
NM_000383.3:c.1566+33del NP_000374.1:n.1566+33del
XM_011529551.1:c.1563+33del XP_011527853.1:n.1563+33del
NM_000383.4:c.1566+33del MANE Select NP_000374.1:n.1566+33del