Canonical Allele Identifier: CA199101
Gene: AIRE HGNC NCBI
gnomAD v2:
21:45713024 A / AC
gnomAD v3:
21:44293141 A / AC
gnomAD v4:
chr21-44293141-A-AC
Joint Max Group AF 0.00001393 (NFE)
Genomes Max Group AF 0.00001973 (NFE)
Exomes Max Group AF 0.0000119 (NFE)
ClinVar RCV:
RCV000169307
RCV000320611
ClinVar Variation:
188935
dbSNP:
786204567
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44293146dup , CM000683.2:g.44293146dup GRCh38
NC_000021.8:g.45713029dup , CM000683.1:g.45713029dup GRCh37
NC_000021.7:g.44537457dup NCBI36
NG_009556.1:g.12267dup , LRG_18:g.12267dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1249dup MANE Select ENSP00000291582.5:p.Leu417ProfsTer7
ENST00000291582.5:c.1249dup ENSP00000291582.5:p.Leu417ProfsTer7
ENST00000337909.5:n.710dup
ENST00000397994.8:n.628dup
ENST00000527919.5:n.1979dup
ENST00000530812.5:n.2996dup
NM_000383.3:c.1249dup NP_000374.1:p.Leu417ProfsTer7
XM_011529551.1:c.1246dup XP_011527853.1:p.Leu416ProfsTer7
NM_000383.4:c.1249dup MANE Select NP_000374.1:p.Leu417ProfsTer7
Search 100 bp 5'
Search 100 bp 3'