Canonical Allele Identifier: CA2391566064
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288258_44288260delinsGCC , CM000683.2:g.44288258_44288260delinsGCC GRCh38
NC_000021.8:g.45708141_45708143delinsGCC , CM000683.1:g.45708141_45708143delinsGCC GRCh37
NC_000021.7:g.44532569_44532571delinsGCC NCBI36
NG_009556.1:g.7379_7381delinsGCC , LRG_18:g.7379_7381delinsGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.539-87_539-85delinsGCC MANE Select ENSP00000291582.5:n.539-87_539-85delinsGCC
ENST00000291582.5:c.539-87_539-85delinsGCC ENSP00000291582.5:n.539-87_539-85delinsGCC
ENST00000527919.5:n.1083-87_1083-85delinsGCC
ENST00000530812.5:n.1091-87_1091-85delinsGCC
NM_000383.3:c.539-87_539-85delinsGCC NP_000374.1:n.539-87_539-85delinsGCC
XM_011529551.1:c.539-87_539-85delinsGCC XP_011527853.1:n.539-87_539-85delinsGCC
NM_000383.4:c.539-87_539-85delinsGCC MANE Select NP_000374.1:n.539-87_539-85delinsGCC