Canonical Allele Identifier: CA2577619768
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287220_44287221insA , CM000683.2:g.44287220_44287221insA GRCh38
NC_000021.8:g.45707103_45707104insA , CM000683.1:g.45707103_45707104insA GRCh37
NC_000021.7:g.44531531_44531532insA NCBI36
NG_009556.1:g.6341_6342insA , LRG_18:g.6341_6342insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+87_463+88insA MANE Select ENSP00000291582.5:n.463+87_463+88insA
ENST00000291582.5:c.463+87_463+88insA ENSP00000291582.5:n.463+87_463+88insA
ENST00000527919.5:n.711_712insA
ENST00000530812.5:n.719_720insA
NM_000383.3:c.463+87_463+88insA NP_000374.1:n.463+87_463+88insA
XM_011529551.1:c.463+87_463+88insA XP_011527853.1:n.463+87_463+88insA
NM_000383.4:c.463+87_463+88insA MANE Select NP_000374.1:n.463+87_463+88insA