Canonical Allele Identifier: CA2580098790
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1724305
ClinVar RCV Id: RCV002309573
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289712_44289713del , CM000683.2:g.44289712_44289713del GRCh38
NC_000021.8:g.45709595_45709596del , CM000683.1:g.45709595_45709596del GRCh37
NC_000021.7:g.44534023_44534024del NCBI36
NG_009556.1:g.8833_8834del , LRG_18:g.8833_8834del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.708_709del MANE Select ENSP00000291582.5:p.Phe236LeufsTer?
ENST00000291582.5:c.708_709del ENSP00000291582.5:p.Phe236LeufsTer?
ENST00000527919.5:n.1441_1442del
ENST00000530812.5:n.2458_2459del
NM_000383.3:c.708_709del NP_000374.1:p.Phe236LeufsTer?
XM_011529551.1:c.708_709del XP_011527853.1:p.Phe236LeufsTer?
NM_000383.4:c.708_709del MANE Select NP_000374.1:p.Phe236LeufsTer?
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