Canonical Allele Identifier: CA321793453
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs887140500
MyVariant Identifiers: chr21:g.45710105_45710108del (hg19) chr21:g.44290222_44290225del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290225_44290228del , CM000683.2:g.44290225_44290228del GRCh38
NC_000021.8:g.45710108_45710111del , CM000683.1:g.45710108_45710111del GRCh37
NC_000021.7:g.44534536_44534539del NCBI36
NG_009556.1:g.9346_9349del , LRG_18:g.9346_9349del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+157_879+160del MANE Select ENSP00000291582.5:n.879+157_879+160del
ENST00000291582.5:c.879+157_879+160del ENSP00000291582.5:n.879+157_879+160del
ENST00000527919.5:n.1612+157_1612+160del
ENST00000530812.5:n.2629+157_2629+160del
NM_000383.3:c.879+157_879+160del NP_000374.1:n.879+157_879+160del
XM_011529551.1:c.879+157_879+160del XP_011527853.1:n.879+157_879+160del
NM_000383.4:c.879+157_879+160del MANE Select NP_000374.1:n.879+157_879+160del
Search 100 bp 5'
Search 100 bp 3'