Canonical Allele Identifier: CA2654788848

Gene: AIRE

Linked Data

• gnomAD v4: 21-44286408-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44286410_44286411del , CM000683.2:g.44286410_44286411del	GRCh38
NC_000021.8:g.45706293_45706294del , CM000683.1:g.45706293_45706294del	GRCh37
NC_000021.7:g.44530721_44530722del	NCBI36
NG_009556.1:g.5531_5532del , LRG_18:g.5531_5532del

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.133-147_133-146del MANE Select	ENSP00000291582.5:n.133-147_133-146del
ENST00000291582.5:c.133-147_133-146del	ENSP00000291582.5:n.133-147_133-146del
ENST00000527919.5:n.294-147_294-146del
ENST00000530812.5:n.302-147_302-146del
NM_000383.3:c.133-147_133-146del	NP_000374.1:n.133-147_133-146del
XM_011529551.1:c.133-147_133-146del	XP_011527853.1:n.133-147_133-146del
NM_000383.4:c.133-147_133-146del MANE Select	NP_000374.1:n.133-147_133-146del