Canonical Allele Identifier: CA749685091

Gene: AIRE

Linked Data

• dbSNP Id: rs1433079857
• gnomAD v3: 21-44296264-GTA-G
• gnomAD v4: 21-44296264-GTA-G
• MyVariant Identifiers: chr21:g.45716148_45716149del (hg19) ; chr21:g.44296265_44296266del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44296265_44296266del , CM000683.2:g.44296265_44296266del	GRCh38
NC_000021.8:g.45716148_45716149del , CM000683.1:g.45716148_45716149del	GRCh37
NC_000021.7:g.44540576_44540577del	NCBI36
NG_009556.1:g.15386_15387del , LRG_18:g.15386_15387del
NG_034033.1:g.1232_1233del

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1504-118_1504-117del MANE Select	ENSP00000291582.5:n.1504-118_1504-117del
ENST00000291582.5:c.1504-118_1504-117del	ENSP00000291582.5:n.1504-118_1504-117del
ENST00000337909.5:n.965-118_965-117del
ENST00000397994.8:n.883-118_883-117del
ENST00000527919.5:n.2263-118_2263-117del
ENST00000530812.5:n.3251-118_3251-117del
NM_000383.3:c.1504-118_1504-117del	NP_000374.1:n.1504-118_1504-117del
XM_011529551.1:c.1501-118_1501-117del	XP_011527853.1:n.1501-118_1501-117del
NM_000383.4:c.1504-118_1504-117del MANE Select	NP_000374.1:n.1504-118_1504-117del