Canonical Allele Identifier: CA749677987
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1361985
ClinVar RCV Id: RCV001899949
dbSNP Id: rs1213326298
gnomAD v3: 21-44288402-T-TC
gnomAD v4: 21-44288402-T-TC
MyVariant Identifiers: chr21:g.45708285_45708286insC (hg19) chr21:g.44288402_44288403insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288405dup , CM000683.2:g.44288405dup GRCh38
NC_000021.8:g.45708288dup , CM000683.1:g.45708288dup GRCh37
NC_000021.7:g.44532716dup NCBI36
NG_009556.1:g.7526dup , LRG_18:g.7526dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.599dup MANE Select ENSP00000291582.5:p.Ala202SerfsTer15
ENST00000291582.5:c.599dup ENSP00000291582.5:p.Ala202SerfsTer15
ENST00000527919.5:n.1143dup
ENST00000530812.5:n.1151dup
NM_000383.3:c.599dup NP_000374.1:p.Ala202SerfsTer15
XM_011529551.1:c.599dup XP_011527853.1:p.Ala202SerfsTer15
NM_000383.4:c.599dup MANE Select NP_000374.1:p.Ala202SerfsTer15
Search 100 bp 5'
Search 100 bp 3'