Canonical Allele Identifier: CA1022714441
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs2040522394
gnomAD v3: 21-44290203-TTTTC-T
gnomAD v4: 21-44290203-TTTTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290207_44290210del , CM000683.2:g.44290207_44290210del GRCh38
NC_000021.8:g.45710090_45710093del , CM000683.1:g.45710090_45710093del GRCh37
NC_000021.7:g.44534518_44534521del NCBI36
NG_009556.1:g.9328_9331del , LRG_18:g.9328_9331del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+139_879+142del MANE Select ENSP00000291582.5:n.879+139_879+142del
ENST00000291582.5:c.879+139_879+142del ENSP00000291582.5:n.879+139_879+142del
ENST00000527919.5:n.1612+139_1612+142del
ENST00000530812.5:n.2629+139_2629+142del
NM_000383.3:c.879+139_879+142del NP_000374.1:n.879+139_879+142del
XM_011529551.1:c.879+139_879+142del XP_011527853.1:n.879+139_879+142del
NM_000383.4:c.879+139_879+142del MANE Select NP_000374.1:n.879+139_879+142del
Search 100 bp 5'
Search 100 bp 3'