Canonical Allele Identifier: CA321788593

Gene: AIRE

Linked Data

• dbSNP Id: rs372582924
• MyVariant Identifiers: chr21:g.45708702_45708703insC (hg19) ; chr21:g.44288819_44288820insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288820dup , CM000683.2:g.44288820dup	GRCh38
NC_000021.8:g.45708703dup , CM000683.1:g.45708703dup	GRCh37
NC_000021.7:g.44533131dup	NCBI36
NG_009556.1:g.7941dup , LRG_18:g.7941dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+362dup MANE Select	ENSP00000291582.5:n.652+362dup
ENST00000291582.5:c.652+362dup	ENSP00000291582.5:n.652+362dup
ENST00000527919.5:n.1196+362dup
ENST00000530812.5:n.1566dup
NM_000383.3:c.652+362dup	NP_000374.1:n.652+362dup
XM_011529551.1:c.652+362dup	XP_011527853.1:n.652+362dup
NM_000383.4:c.652+362dup MANE Select	NP_000374.1:n.652+362dup