Canonical Allele Identifier: CA2818037996
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289961dup , CM000683.2:g.44289961dup GRCh38
NC_000021.8:g.45709844dup , CM000683.1:g.45709844dup GRCh37
NC_000021.7:g.44534272dup NCBI36
NG_009556.1:g.9082dup , LRG_18:g.9082dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.799-27dup MANE Select ENSP00000291582.5:n.799-27dup
ENST00000291582.5:c.799-27dup ENSP00000291582.5:n.799-27dup
ENST00000527919.5:n.1532-27dup
ENST00000530812.5:n.2549-27dup
NM_000383.3:c.799-27dup NP_000374.1:n.799-27dup
XM_011529551.1:c.799-27dup XP_011527853.1:n.799-27dup
NM_000383.4:c.799-27dup MANE Select NP_000374.1:n.799-27dup