Canonical Allele Identifier: CA2577619758

Gene: AIRE

Linked Data

• gnomAD v4: 21-44287206-CCCCACCCGGGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44287214_44287225del , CM000683.2:g.44287214_44287225del	GRCh38
NC_000021.8:g.45707097_45707108del , CM000683.1:g.45707097_45707108del	GRCh37
NC_000021.7:g.44531525_44531536del	NCBI36
NG_009556.1:g.6335_6346del , LRG_18:g.6335_6346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.463+81_463+92del MANE Select	ENSP00000291582.5:n.463+81_463+92del
ENST00000291582.5:c.463+81_463+92del	ENSP00000291582.5:n.463+81_463+92del
ENST00000527919.5:n.705_716del
ENST00000530812.5:n.713_724del
NM_000383.3:c.463+81_463+92del	NP_000374.1:n.463+81_463+92del
XM_011529551.1:c.463+81_463+92del	XP_011527853.1:n.463+81_463+92del
NM_000383.4:c.463+81_463+92del MANE Select	NP_000374.1:n.463+81_463+92del