Canonical Allele Identifier: CA2391565534

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44287262_44287264delinsGTC , CM000683.2:g.44287262_44287264delinsGTC	GRCh38
NC_000021.8:g.45707145_45707147delinsGTC , CM000683.1:g.45707145_45707147delinsGTC	GRCh37
NC_000021.7:g.44531573_44531575delinsGTC	NCBI36
NG_009556.1:g.6383_6385delinsGTC , LRG_18:g.6383_6385delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.463+129_463+131delinsGTC MANE Select	ENSP00000291582.5:n.463+129_463+131delinsGTC
ENST00000291582.5:c.463+129_463+131delinsGTC	ENSP00000291582.5:n.463+129_463+131delinsGTC
ENST00000527919.5:n.753_755delinsGTC
ENST00000530812.5:n.761_763delinsGTC
NM_000383.3:c.463+129_463+131delinsGTC	NP_000374.1:n.463+129_463+131delinsGTC
XM_011529551.1:c.463+129_463+131delinsGTC	XP_011527853.1:n.463+129_463+131delinsGTC
NM_000383.4:c.463+129_463+131delinsGTC MANE Select	NP_000374.1:n.463+129_463+131delinsGTC