Canonical Allele Identifier: CA2391566245

Gene: AIRE

Linked Data

• dbSNP Id: rs2040504944
• gnomAD v4: 21-44288601-GCTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288604_44288607del , CM000683.2:g.44288604_44288607del	GRCh38
NC_000021.8:g.45708487_45708490del , CM000683.1:g.45708487_45708490del	GRCh37
NC_000021.7:g.44532915_44532918del	NCBI36
NG_009556.1:g.7725_7728del , LRG_18:g.7725_7728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+146_652+149del MANE Select	ENSP00000291582.5:n.652+146_652+149del
ENST00000291582.5:c.652+146_652+149del	ENSP00000291582.5:n.652+146_652+149del
ENST00000527919.5:n.1196+146_1196+149del
ENST00000530812.5:n.1350_1353del
NM_000383.3:c.652+146_652+149del	NP_000374.1:n.652+146_652+149del
XM_011529551.1:c.652+146_652+149del	XP_011527853.1:n.652+146_652+149del
NM_000383.4:c.652+146_652+149del MANE Select	NP_000374.1:n.652+146_652+149del