Canonical Allele Identifier: CA2580098835
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2106319
ClinVar RCV Id: RCV003026412
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287140del , CM000683.2:g.44287140del GRCh38
NC_000021.8:g.45707023del , CM000683.1:g.45707023del GRCh37
NC_000021.7:g.44531451del NCBI36
NG_009556.1:g.6261del , LRG_18:g.6261del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+7del MANE Select ENSP00000291582.5:n.463+7del
ENST00000291582.5:c.463+7del ENSP00000291582.5:n.463+7del
ENST00000527919.5:n.631del
ENST00000530812.5:n.639del
NM_000383.3:c.463+7del NP_000374.1:n.463+7del
XM_011529551.1:c.463+7del XP_011527853.1:n.463+7del
NM_000383.4:c.463+7del MANE Select NP_000374.1:n.463+7del
Search 100 bp 5'
Search 100 bp 3'