Canonical Allele Identifier: CA2654793726

Gene: AIRE

Linked Data

• gnomAD v4: 21-44290855-AGAAACCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290857_44290863del , CM000683.2:g.44290857_44290863del	GRCh38
NC_000021.8:g.45710740_45710746del , CM000683.1:g.45710740_45710746del	GRCh37
NC_000021.7:g.44535168_44535174del	NCBI36
NG_009556.1:g.9978_9984del , LRG_18:g.9978_9984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-238_880-232del MANE Select	ENSP00000291582.5:n.880-238_880-232del
ENST00000291582.5:c.880-238_880-232del	ENSP00000291582.5:n.880-238_880-232del
ENST00000337909.5:n.103_109del
ENST00000397994.8:n.103_109del
ENST00000527919.5:n.1613-241_1613-235del
ENST00000530812.5:n.2630-241_2630-235del
NM_000383.3:c.880-238_880-232del	NP_000374.1:n.880-238_880-232del
XM_011529551.1:c.880-241_880-235del	XP_011527853.1:n.880-241_880-235del
NM_000383.4:c.880-238_880-232del MANE Select	NP_000374.1:n.880-238_880-232del