Canonical Allele Identifier: CA2840652116
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287664dup , CM000683.2:g.44287664dup GRCh38
NC_000021.8:g.45707547dup , CM000683.1:g.45707547dup GRCh37
NC_000021.7:g.44531975dup NCBI36
NG_009556.1:g.6785dup , LRG_18:g.6785dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.538+73dup MANE Select ENSP00000291582.5:n.538+73dup
ENST00000291582.5:c.538+73dup ENSP00000291582.5:n.538+73dup
ENST00000527919.5:n.1082+73dup
ENST00000530812.5:n.1090+73dup
NM_000383.3:c.538+73dup NP_000374.1:n.538+73dup
XM_011529551.1:c.538+73dup XP_011527853.1:n.538+73dup
NM_000383.4:c.538+73dup MANE Select NP_000374.1:n.538+73dup
Search 100 bp 5'
Search 100 bp 3'