Canonical Allele Identifier: CA2391566092

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288307_44288319delinsTCCCCACGGGTGA , CM000683.2:g.44288307_44288319delinsTCCCCACGGGTGA	GRCh38
NC_000021.8:g.45708190_45708202delinsTCCCCACGGGTGA , CM000683.1:g.45708190_45708202delinsTCCCCACGGGTGA	GRCh37
NC_000021.7:g.44532618_44532630delinsTCCCCACGGGTGA	NCBI36
NG_009556.1:g.7428_7440delinsTCCCCACGGGTGA , LRG_18:g.7428_7440delinsTCCCCACGGGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.539-38_539-26delinsTCCCCACGGGTGA MANE Select	ENSP00000291582.5:n.539-38_539-26delinsTCCCCACGGGTGA
ENST00000291582.5:c.539-38_539-26delinsTCCCCACGGGTGA	ENSP00000291582.5:n.539-38_539-26delinsTCCCCACGGGTGA
ENST00000527919.5:n.1083-38_1083-26delinsTCCCCACGGGTGA
ENST00000530812.5:n.1091-38_1091-26delinsTCCCCACGGGTGA
NM_000383.3:c.539-38_539-26delinsTCCCCACGGGTGA	NP_000374.1:n.539-38_539-26delinsTCCCCACGGGTGA
XM_011529551.1:c.539-38_539-26delinsTCCCCACGGGTGA	XP_011527853.1:n.539-38_539-26delinsTCCCCACGGGTGA
NM_000383.4:c.539-38_539-26delinsTCCCCACGGGTGA MANE Select	NP_000374.1:n.539-38_539-26delinsTCCCCACGGGTGA