Canonical Allele Identifier: CA2654790051

Gene: AIRE

Linked Data

• gnomAD v4: 21-44288609-T-TGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288618_44288620dup , CM000683.2:g.44288618_44288620dup	GRCh38
NC_000021.8:g.45708501_45708503dup , CM000683.1:g.45708501_45708503dup	GRCh37
NC_000021.7:g.44532929_44532931dup	NCBI36
NG_009556.1:g.7739_7741dup , LRG_18:g.7739_7741dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+160_652+162dup MANE Select	ENSP00000291582.5:n.652+160_652+162dup
ENST00000291582.5:c.652+160_652+162dup	ENSP00000291582.5:n.652+160_652+162dup
ENST00000527919.5:n.1196+160_1196+162dup
ENST00000530812.5:n.1364_1366dup
NM_000383.3:c.652+160_652+162dup	NP_000374.1:n.652+160_652+162dup
XM_011529551.1:c.652+160_652+162dup	XP_011527853.1:n.652+160_652+162dup
NM_000383.4:c.652+160_652+162dup MANE Select	NP_000374.1:n.652+160_652+162dup