Canonical Allele Identifier: CA10052147
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 633035
ClinVar RCV Id: RCV000780824
dbSNP Id: rs750764323
ExAC: 21:45714369 GC / G
gnomAD v2: 21-45714369-GC-G
gnomAD v3: 21-44294486-GC-G
gnomAD v4: 21-44294486-GC-G
MyVariant Identifiers: chr21:g.45714370del (hg19) chr21:g.44294487del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44294490del , CM000683.2:g.44294490del GRCh38
NC_000021.8:g.45714373del , CM000683.1:g.45714373del GRCh37
NC_000021.7:g.44538801del NCBI36
NG_009556.1:g.13611del , LRG_18:g.13611del

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1490del MANE Select ENSP00000291582.5:p.Pro497LeufsTer24
ENST00000291582.5:c.1490del ENSP00000291582.5:p.Pro497LeufsTer24
ENST00000337909.5:n.951del
ENST00000397994.8:n.869del
ENST00000527919.5:n.2249del
ENST00000530812.5:n.3237del
NM_000383.3:c.1490del NP_000374.1:p.Pro497LeufsTer24
XM_011529551.1:c.1487del XP_011527853.1:p.Pro496LeufsTer24
NM_000383.4:c.1490del MANE Select NP_000374.1:p.Pro497LeufsTer24
Search 100 bp 5'
Search 100 bp 3'