Canonical Allele Identifier: CA16042024
Gene: AIRE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370846
ClinVar RCV Id: RCV000409364
dbSNP Id: rs1057516811

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296447dup , CM000683.2:g.44296447dup GRCh38
NC_000021.8:g.45716330dup , CM000683.1:g.45716330dup GRCh37
NC_000021.7:g.44540758dup NCBI36
NG_009556.1:g.15568dup , LRG_18:g.15568dup
NG_034033.1:g.1414dup

Transcript Alleles

HGVS Amino-acid change
NM_000383.3:c.1566+2dup VV NP_000374.1:p.=
XM_011529551.1:c.1563+2dup XP_011527853.1:p.=
NM_000383.4:c.1566+2dup VV MANE Preferred
ENST00000291582.5:c.1566+2dup ENSP00000291582.5:p.=
ENST00000337909.5:n.1027+2dup
ENST00000397994.8:n.945+2dup
ENST00000527919.5:n.2325+2dup
ENST00000530812.5:n.3313+2dup