Canonical Allele Identifier: CA16042019
Gene: AIRE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371416
ClinVar RCV Id: RCV000410507
dbSNP Id: rs1057517254

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292390del , CM000683.2:g.44292390del GRCh38
NC_000021.8:g.45712273del , CM000683.1:g.45712273del GRCh37
NC_000021.7:g.44536701del NCBI36
NG_009556.1:g.11511del , LRG_18:g.11511del

Transcript Alleles

HGVS Amino-acid change
NM_000383.3:c.1084del VV NP_000374.1:p.Val362TrpfsTer16
XM_011529551.1:c.1081del XP_011527853.1:p.Val361TrpfsTer16
ENST00000291582.5:c.1084del ENSP00000291582.5:p.Val362TrpfsTer16
ENST00000337909.5:n.545del
ENST00000397994.8:n.545del
ENST00000527919.5:n.1814del
ENST00000530812.5:n.2831del