Canonical Allele Identifier: CA2654790269

Gene: AIRE

Linked Data

• gnomAD v4: 21-44288851-ACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288864_44288897del , CM000683.2:g.44288864_44288897del	GRCh38
NC_000021.8:g.45708747_45708780del , CM000683.1:g.45708747_45708780del	GRCh37
NC_000021.7:g.44533175_44533208del	NCBI36
NG_009556.1:g.7985_8018del , LRG_18:g.7985_8018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.652+406_652+439del MANE Select	ENSP00000291582.5:n.652+406_652+439del
ENST00000291582.5:c.652+406_652+439del	ENSP00000291582.5:n.652+406_652+439del
ENST00000527919.5:n.1197-364_1197-331del
ENST00000530812.5:n.1610_1643del
NM_000383.3:c.652+406_652+439del	NP_000374.1:n.652+406_652+439del
XM_011529551.1:c.652+406_652+439del	XP_011527853.1:n.652+406_652+439del
NM_000383.4:c.652+406_652+439del MANE Select	NP_000374.1:n.652+406_652+439del