Canonical Allele Identifier: CA16042018
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 371106
ClinVar RCV Id: RCV000411502
dbSNP Id: rs1057517011

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44291192del , CM000683.2:g.44291192del GRCh38
NC_000021.8:g.45711075del , CM000683.1:g.45711075del GRCh37
NC_000021.7:g.44535503del NCBI36
NG_009556.1:g.10313del , LRG_18:g.10313del

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.977del MANE Select ENSP00000291582.5:p.Pro326ArgfsTer?
ENST00000291582.5:c.977del ENSP00000291582.5:p.Pro326ArgfsTer?
ENST00000337909.5:n.438del
ENST00000397994.8:n.438del
ENST00000527919.5:n.1707del
ENST00000530812.5:n.2724del
NM_000383.3:c.977del NP_000374.1:p.Pro326ArgfsTer?
XM_011529551.1:c.974del XP_011527853.1:p.Pro325ArgfsTer?
NM_000383.4:c.977del MANE Select NP_000374.1:p.Pro326ArgfsTer?