Canonical Allele Identifier: CA16042017
Gene: AIRE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371434
ClinVar RCV Id: RCV000411715
dbSNP Id: rs1057517268

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289998_44289999del , CM000683.2:g.44289998_44289999del GRCh38
NC_000021.7:g.44534309_44534310del NCBI36
NC_000021.8:g.45709881_45709882del , CM000683.1:g.45709881_45709882del GRCh37
NG_009556.1:g.9119_9120del , LRG_18:g.9119_9120del

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.5:c.809_810del ENSP00000291582.5:p.Glu270GlyfsTer2
ENST00000527919.5:n.1542_1543del
ENST00000530812.5:n.2559_2560del
NM_000383.3:c.809_810del VV NP_000374.1:p.Glu270GlyfsTer2
XM_011529551.1:c.809_810del XP_011527853.1:p.Glu270GlyfsTer2