Canonical Allele Identifier: CA638115809
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1238980039

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288311del , CM000683.2:g.44288311del GRCh38
NC_000021.8:g.45708194del , CM000683.1:g.45708194del GRCh37
NC_000021.7:g.44532622del NCBI36
NG_009556.1:g.7432del , LRG_18:g.7432del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.539-34del MANE Select ENSP00000291582.5:n.539-34del
ENST00000291582.5:c.539-34del ENSP00000291582.5:n.539-34del
ENST00000527919.5:n.1083-34del
ENST00000530812.5:n.1091-34del
NM_000383.3:c.539-34del NP_000374.1:n.539-34del
XM_011529551.1:c.539-34del XP_011527853.1:n.539-34del
NM_000383.4:c.539-34del MANE Select NP_000374.1:n.539-34del