Canonical Allele Identifier: CA321794593
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 550476
ClinVar RCV Id: RCV000665231
dbSNP Id: rs769305771
gnomAD v3: 21-44292306-AC-A
gnomAD v4: 21-44292306-AC-A
MyVariant Identifiers: chr21:g.45712190del (hg19) chr21:g.44292308del (hg38) chr21:g.44292307del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292308del , CM000683.2:g.44292308del GRCh38
NC_000021.8:g.45712191del , CM000683.1:g.45712191del GRCh37
NC_000021.7:g.44536619del NCBI36
NG_009556.1:g.11429del , LRG_18:g.11429del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1002del MANE Select ENSP00000291582.5:p.Trp335GlyfsTer?
ENST00000291582.5:c.1002del ENSP00000291582.5:p.Trp335GlyfsTer?
ENST00000337909.5:n.463del
ENST00000397994.8:n.463del
ENST00000527919.5:n.1732del
ENST00000530812.5:n.2749del
NM_000383.3:c.1002del NP_000374.1:p.Trp335GlyfsTer?
XM_011529551.1:c.999del XP_011527853.1:p.Trp334GlyfsTer?
NM_000383.4:c.1002del MANE Select NP_000374.1:p.Trp335GlyfsTer?
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