Canonical Allele Identifier: CA2577620230

Gene: AIRE

Linked Data

• gnomAD v4: 21-44296285-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44296290dup , CM000683.2:g.44296290dup	GRCh38
NC_000021.8:g.45716173dup , CM000683.1:g.45716173dup	GRCh37
NC_000021.7:g.44540601dup	NCBI36
NG_009556.1:g.15411dup , LRG_18:g.15411dup
NG_034033.1:g.1257dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.1504-93dup MANE Select	ENSP00000291582.5:n.1504-93dup
ENST00000291582.5:c.1504-93dup	ENSP00000291582.5:n.1504-93dup
ENST00000337909.5:n.965-93dup
ENST00000397994.8:n.883-93dup
ENST00000527919.5:n.2263-93dup
ENST00000530812.5:n.3251-93dup
NM_000383.3:c.1504-93dup	NP_000374.1:n.1504-93dup
XM_011529551.1:c.1501-93dup	XP_011527853.1:n.1501-93dup
NM_000383.4:c.1504-93dup MANE Select	NP_000374.1:n.1504-93dup