Canonical Allele Identifier: CA321793450
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs887140500
gnomAD v2: 21-45710104-A-AT
gnomAD v3: 21-44290221-A-AT
gnomAD v4: 21-44290221-A-AT
MyVariant Identifiers: chr21:g.45710104_45710105insT (hg19) chr21:g.44290221_44290222insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290228dup , CM000683.2:g.44290228dup GRCh38
NC_000021.8:g.45710111dup , CM000683.1:g.45710111dup GRCh37
NC_000021.7:g.44534539dup NCBI36
NG_009556.1:g.9349dup , LRG_18:g.9349dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+160dup MANE Select ENSP00000291582.5:n.879+160dup
ENST00000291582.5:c.879+160dup ENSP00000291582.5:n.879+160dup
ENST00000527919.5:n.1612+160dup
ENST00000530812.5:n.2629+160dup
NM_000383.3:c.879+160dup NP_000374.1:n.879+160dup
XM_011529551.1:c.879+160dup XP_011527853.1:n.879+160dup
NM_000383.4:c.879+160dup MANE Select NP_000374.1:n.879+160dup
Search 100 bp 5'
Search 100 bp 3'