Canonical Allele Identifier: CA638115968

Gene: AIRE

Linked Data

• dbSNP Id: rs1403850807
• gnomAD v2: 21-45711001-G-GGGGAGAAACCT
• MyVariant Identifiers: chr21:g.45711001_45711002insGGGAGAAACCT (hg19) ; chr21:g.44291118_44291119insGGGAGAAACCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44291118_44291119insGGGAGAAACCT , CM000683.2:g.44291118_44291119insGGGAGAAACCT	GRCh38
NC_000021.8:g.45711001_45711002insGGGAGAAACCT , CM000683.1:g.45711001_45711002insGGGAGAAACCT	GRCh37
NC_000021.7:g.44535429_44535430insGGGAGAAACCT	NCBI36
NG_009556.1:g.10239_10240insGGGAGAAACCT , LRG_18:g.10239_10240insGGGAGAAACCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.903_904insGGGAGAAACCT MANE Select	ENSP00000291582.5:p.Cys302GlyfsTer?
ENST00000291582.5:c.903_904insGGGAGAAACCT	ENSP00000291582.5:p.Cys302GlyfsTer?
ENST00000337909.5:n.364_365insGGGAGAAACCT
ENST00000397994.8:n.364_365insGGGAGAAACCT
ENST00000527919.5:n.1633_1634insGGGAGAAACCT
ENST00000530812.5:n.2650_2651insGGGAGAAACCT
NM_000383.3:c.903_904insGGGAGAAACCT	NP_000374.1:p.Cys302GlyfsTer?
XM_011529551.1:c.900_901insGGGAGAAACCT	XP_011527853.1:p.Cys301GlyfsTer?
NM_000383.4:c.903_904insGGGAGAAACCT MANE Select	NP_000374.1:p.Cys302GlyfsTer?