Canonical Allele Identifier: CA2840652115
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287501dup , CM000683.2:g.44287501dup GRCh38
NC_000021.8:g.45707384dup , CM000683.1:g.45707384dup GRCh37
NC_000021.7:g.44531812dup NCBI36
NG_009556.1:g.6622dup , LRG_18:g.6622dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.464-16dup MANE Select ENSP00000291582.5:n.464-16dup
ENST00000291582.5:c.464-16dup ENSP00000291582.5:n.464-16dup
ENST00000527919.5:n.992dup
ENST00000530812.5:n.1000dup
NM_000383.3:c.464-16dup NP_000374.1:n.464-16dup
XM_011529551.1:c.464-16dup XP_011527853.1:n.464-16dup
NM_000383.4:c.464-16dup MANE Select NP_000374.1:n.464-16dup