Canonical Allele Identifier: CA2391570518

Gene: AIRE

Linked Data

• dbSNP Id: rs2040605665
• gnomAD v4: 21-44296255-GAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44296256_44296258del , CM000683.2:g.44296256_44296258del	GRCh38
NC_000021.8:g.45716139_45716141del , CM000683.1:g.45716139_45716141del	GRCh37
NC_000021.7:g.44540567_44540569del	NCBI36
NG_009556.1:g.15377_15379del , LRG_18:g.15377_15379del
NG_034033.1:g.1223_1225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.1504-127_1504-125del MANE Select	ENSP00000291582.5:n.1504-127_1504-125del
ENST00000291582.5:c.1504-127_1504-125del	ENSP00000291582.5:n.1504-127_1504-125del
ENST00000337909.5:n.965-127_965-125del
ENST00000397994.8:n.883-127_883-125del
ENST00000527919.5:n.2263-127_2263-125del
ENST00000530812.5:n.3251-127_3251-125del
NM_000383.3:c.1504-127_1504-125del	NP_000374.1:n.1504-127_1504-125del
XM_011529551.1:c.1501-127_1501-125del	XP_011527853.1:n.1501-127_1501-125del
NM_000383.4:c.1504-127_1504-125del MANE Select	NP_000374.1:n.1504-127_1504-125del