Canonical Allele Identifier: CA10051626

Gene: AIRE

Linked Data

• dbSNP Id: rs760661721
• ExAC: 21:45708250 A / AT
• gnomAD v2: 21-45708250-A-AT
• gnomAD v4: 21-44288367-A-AT
• MyVariant Identifiers: chr21:g.45708250_45708251insT (hg19) ; chr21:g.44288367_44288368insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288367_44288368insT , CM000683.2:g.44288367_44288368insT	GRCh38
NC_000021.8:g.45708250_45708251insT , CM000683.1:g.45708250_45708251insT	GRCh37
NC_000021.7:g.44532678_44532679insT	NCBI36
NG_009556.1:g.7488_7489insT , LRG_18:g.7488_7489insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.561_562insT MANE Select	ENSP00000291582.5:p.Val188CysfsTer29
ENST00000291582.5:c.561_562insT	ENSP00000291582.5:p.Val188CysfsTer29
ENST00000527919.5:n.1105_1106insT
ENST00000530812.5:n.1113_1114insT
NM_000383.3:c.561_562insT	NP_000374.1:p.Val188CysfsTer29
XM_011529551.1:c.561_562insT	XP_011527853.1:p.Val188CysfsTer29
NM_000383.4:c.561_562insT MANE Select	NP_000374.1:p.Val188CysfsTer29