Canonical Allele Identifier: CA2499225974

Gene: AIRE

Linked Data

• ClinVar Variation Id: 1076320
• ClinVar RCV Id: RCV001390187
• dbSNP Id: rs2146379302
• gnomAD v4: 21-44289750-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289751del , CM000683.2:g.44289751del	GRCh38
NC_000021.8:g.45709634del , CM000683.1:g.45709634del	GRCh37
NC_000021.7:g.44534062del	NCBI36
NG_009556.1:g.8872del , LRG_18:g.8872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.747del MANE Select	ENSP00000291582.5:p.Ser249ArgfsTer?
ENST00000291582.5:c.747del	ENSP00000291582.5:p.Ser249ArgfsTer?
ENST00000527919.5:n.1480del
ENST00000530812.5:n.2497del
NM_000383.3:c.747del	NP_000374.1:p.Ser249ArgfsTer?
XM_011529551.1:c.747del	XP_011527853.1:p.Ser249ArgfsTer?
NM_000383.4:c.747del MANE Select	NP_000374.1:p.Ser249ArgfsTer?