Canonical Allele Identifier: CA10051627

Gene: AIRE

Linked Data

• dbSNP Id: rs766189603
• ExAC: 21:45708252 T / TCAGA
• gnomAD v2: 21-45708252-T-TCAGA
• gnomAD v4: 21-44288369-T-TCAGA
• MyVariant Identifiers: chr21:g.45708252_45708253insCAGA (hg19) ; chr21:g.44288369_44288370insCAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288370_44288371insAGAC , CM000683.2:g.44288370_44288371insAGAC	GRCh38
NC_000021.8:g.45708253_45708254insAGAC , CM000683.1:g.45708253_45708254insAGAC	GRCh37
NC_000021.7:g.44532681_44532682insAGAC	NCBI36
NG_009556.1:g.7491_7492insAGAC , LRG_18:g.7491_7492insAGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.564_565insAGAC MANE Select	ENSP00000291582.5:p.Gln189ArgfsTer29
ENST00000291582.5:c.564_565insAGAC	ENSP00000291582.5:p.Gln189ArgfsTer29
ENST00000527919.5:n.1108_1109insAGAC
ENST00000530812.5:n.1116_1117insAGAC
NM_000383.3:c.564_565insAGAC	NP_000374.1:p.Gln189ArgfsTer29
XM_011529551.1:c.564_565insAGAC	XP_011527853.1:p.Gln189ArgfsTer29
NM_000383.4:c.564_565insAGAC MANE Select	NP_000374.1:p.Gln189ArgfsTer29