Canonical Allele Identifier: CA749676942
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1382709356
gnomAD v4: 21-44287305-GCTCC-G
MyVariant Identifiers: chr21:g.45707189_45707192del (hg19) chr21:g.44287306_44287309del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287310_44287313del , CM000683.2:g.44287310_44287313del GRCh38
NC_000021.8:g.45707193_45707196del , CM000683.1:g.45707193_45707196del GRCh37
NC_000021.7:g.44531621_44531624del NCBI36
NG_009556.1:g.6431_6434del , LRG_18:g.6431_6434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+177_463+180del MANE Select ENSP00000291582.5:n.463+177_463+180del
ENST00000291582.5:c.463+177_463+180del ENSP00000291582.5:n.463+177_463+180del
ENST00000527919.5:n.801_804del
ENST00000530812.5:n.809_812del
NM_000383.3:c.463+177_463+180del NP_000374.1:n.463+177_463+180del
XM_011529551.1:c.463+177_463+180del XP_011527853.1:n.463+177_463+180del
NM_000383.4:c.463+177_463+180del MANE Select NP_000374.1:n.463+177_463+180del
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