Canonical Allele Identifier: CA2818037391

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288418_44288419insCCTCCCGGCACAATACAGG , CM000683.2:g.44288418_44288419insCCTCCCGGCACAATACAGG	GRCh38
NC_000021.8:g.45708301_45708302insCCTCCCGGCACAATACAGG , CM000683.1:g.45708301_45708302insCCTCCCGGCACAATACAGG	GRCh37
NC_000021.7:g.44532729_44532730insCCTCCCGGCACAATACAGG	NCBI36
NG_009556.1:g.7539_7540insCCTCCCGGCACAATACAGG , LRG_18:g.7539_7540insCCTCCCGGCACAATACAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.612_613insCCTCCCGGCACAATACAGG MANE Select	ENSP00000291582.5:p.Ala205ProfsTer18
ENST00000291582.5:c.612_613insCCTCCCGGCACAATACAGG	ENSP00000291582.5:p.Ala205ProfsTer18
ENST00000527919.5:n.1156_1157insCCTCCCGGCACAATACAGG
ENST00000530812.5:n.1164_1165insCCTCCCGGCACAATACAGG
NM_000383.3:c.612_613insCCTCCCGGCACAATACAGG	NP_000374.1:p.Ala205ProfsTer18
XM_011529551.1:c.612_613insCCTCCCGGCACAATACAGG	XP_011527853.1:p.Ala205ProfsTer18
NM_000383.4:c.612_613insCCTCCCGGCACAATACAGG MANE Select	NP_000374.1:p.Ala205ProfsTer18