Canonical Allele Identifier: CA2580098788
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1724973
ClinVar RCV Id: RCV002308032
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289689del , CM000683.2:g.44289689del GRCh38
NC_000021.8:g.45709572del , CM000683.1:g.45709572del GRCh37
NC_000021.7:g.44534000del NCBI36
NG_009556.1:g.8810del , LRG_18:g.8810del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.685del MANE Select ENSP00000291582.5:p.Glu229SerfsTer?
ENST00000291582.5:c.685del ENSP00000291582.5:p.Glu229SerfsTer?
ENST00000527919.5:n.1418del
ENST00000530812.5:n.2435del
NM_000383.3:c.685del NP_000374.1:p.Glu229SerfsTer?
XM_011529551.1:c.685del XP_011527853.1:p.Glu229SerfsTer?
NM_000383.4:c.685del MANE Select NP_000374.1:p.Glu229SerfsTer?
Search 100 bp 5'
Search 100 bp 3'