Canonical Allele Identifier: CA2391567085
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290221_44290225delinsATTTT , CM000683.2:g.44290221_44290225delinsATTTT GRCh38
NC_000021.8:g.45710104_45710108delinsATTTT , CM000683.1:g.45710104_45710108delinsATTTT GRCh37
NC_000021.7:g.44534532_44534536delinsATTTT NCBI36
NG_009556.1:g.9342_9346delinsATTTT , LRG_18:g.9342_9346delinsATTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+153_879+157delinsATTTT MANE Select ENSP00000291582.5:n.879+153_879+157delinsATTTT
ENST00000291582.5:c.879+153_879+157delinsATTTT ENSP00000291582.5:n.879+153_879+157delinsATTTT
ENST00000527919.5:n.1612+153_1612+157delinsATTTT
ENST00000530812.5:n.2629+153_2629+157delinsATTTT
NM_000383.3:c.879+153_879+157delinsATTTT NP_000374.1:n.879+153_879+157delinsATTTT
XM_011529551.1:c.879+153_879+157delinsATTTT XP_011527853.1:n.879+153_879+157delinsATTTT
NM_000383.4:c.879+153_879+157delinsATTTT MANE Select NP_000374.1:n.879+153_879+157delinsATTTT