Canonical Allele Identifier: CA10051494

Gene: AIRE

Linked Data

• dbSNP Id: rs778455817
• ExAC: 21:45706479 G / GCCCCCAGCTGCATGCAGGCTGAAC
• MyVariant Identifiers: chr21:g.45706479_45706480insCCCCCAGCTGCATGCAGGCTGAAC (hg19) ; chr21:g.44286596_44286597insCCCCCAGCTGCATGCAGGCTGAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44286598_44286599insCCCAGCTGCATGCAGGCTGAACCC , CM000683.2:g.44286598_44286599insCCCAGCTGCATGCAGGCTGAACCC	GRCh38
NC_000021.8:g.45706481_45706482insCCCAGCTGCATGCAGGCTGAACCC , CM000683.1:g.45706481_45706482insCCCAGCTGCATGCAGGCTGAACCC	GRCh37
NC_000021.7:g.44530909_44530910insCCCAGCTGCATGCAGGCTGAACCC	NCBI36
NG_009556.1:g.5719_5720insCCCAGCTGCATGCAGGCTGAACCC , LRG_18:g.5719_5720insCCCAGCTGCATGCAGGCTGAACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.174_175insCCCAGCTGCATGCAGGCTGAACCC MANE Select	ENSP00000291582.5:p.Ala58_Phe59insProSerCysMetGlnAlaGluPro
ENST00000291582.5:c.174_175insCCCAGCTGCATGCAGGCTGAACCC	ENSP00000291582.5:p.Ala58_Phe59insProSerCysMetGlnAlaGluPro
ENST00000527919.5:n.335_336insCCCAGCTGCATGCAGGCTGAACCC
ENST00000530812.5:n.343_344insCCCAGCTGCATGCAGGCTGAACCC
NM_000383.3:c.174_175insCCCAGCTGCATGCAGGCTGAACCC	NP_000374.1:p.Ala58_Phe59insProSerCysMetGlnAlaGluPro
XM_011529551.1:c.174_175insCCCAGCTGCATGCAGGCTGAACCC	XP_011527853.1:p.Ala58_Phe59insProSerCysMetGlnAlaGluPro
NM_000383.4:c.174_175insCCCAGCTGCATGCAGGCTGAACCC MANE Select	NP_000374.1:p.Ala58_Phe59insProSerCysMetGlnAlaGluPro