Canonical Allele Identifier: CA2737749742

Gene: AIRE

Linked Data

• dbSNP Id: rs2146378263

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288830del , CM000683.2:g.44288830del	GRCh38
NC_000021.8:g.45708713del , CM000683.1:g.45708713del	GRCh37
NC_000021.7:g.44533141del	NCBI36
NG_009556.1:g.7951del , LRG_18:g.7951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+372del MANE Select	ENSP00000291582.5:n.652+372del
ENST00000291582.5:c.652+372del	ENSP00000291582.5:n.652+372del
ENST00000527919.5:n.1196+372del
ENST00000530812.5:n.1576del
NM_000383.3:c.652+372del	NP_000374.1:n.652+372del
XM_011529551.1:c.652+372del	XP_011527853.1:n.652+372del
NM_000383.4:c.652+372del MANE Select	NP_000374.1:n.652+372del