Canonical Allele Identifier: CA2654790263

Gene: AIRE

Linked Data

• gnomAD v4: 21-44288844-C-CCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288845_44288846insAGC , CM000683.2:g.44288845_44288846insAGC	GRCh38
NC_000021.8:g.45708728_45708729insAGC , CM000683.1:g.45708728_45708729insAGC	GRCh37
NC_000021.7:g.44533156_44533157insAGC	NCBI36
NG_009556.1:g.7966_7967insAGC , LRG_18:g.7966_7967insAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+387_652+388insAGC MANE Select	ENSP00000291582.5:n.652+387_652+388insAGC
ENST00000291582.5:c.652+387_652+388insAGC	ENSP00000291582.5:n.652+387_652+388insAGC
ENST00000527919.5:n.1197-383_1197-382insAGC
ENST00000530812.5:n.1591_1592insAGC
NM_000383.3:c.652+387_652+388insAGC	NP_000374.1:n.652+387_652+388insAGC
XM_011529551.1:c.652+387_652+388insAGC	XP_011527853.1:n.652+387_652+388insAGC
NM_000383.4:c.652+387_652+388insAGC MANE Select	NP_000374.1:n.652+387_652+388insAGC