Canonical Allele Identifier: CA2740094736
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2978023
ClinVar RCV Id: RCV003836685
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290075_44290076insA , CM000683.2:g.44290075_44290076insA GRCh38
NC_000021.8:g.45709958_45709959insA , CM000683.1:g.45709958_45709959insA GRCh37
NC_000021.7:g.44534386_44534387insA NCBI36
NG_009556.1:g.9196_9197insA , LRG_18:g.9196_9197insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.879+7_879+8insA MANE Select ENSP00000291582.5:n.879+7_879+8insA
ENST00000291582.5:c.879+7_879+8insA ENSP00000291582.5:n.879+7_879+8insA
ENST00000527919.5:n.1612+7_1612+8insA
ENST00000530812.5:n.2629+7_2629+8insA
NM_000383.3:c.879+7_879+8insA NP_000374.1:n.879+7_879+8insA
XM_011529551.1:c.879+7_879+8insA XP_011527853.1:n.879+7_879+8insA
NM_000383.4:c.879+7_879+8insA MANE Select NP_000374.1:n.879+7_879+8insA
Search 100 bp 5'
Search 100 bp 3'