Canonical Allele Identifier: CA2391567406

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290889_44290890delinsCG , CM000683.2:g.44290889_44290890delinsCG	GRCh38
NC_000021.8:g.45710772_45710773delinsCG , CM000683.1:g.45710772_45710773delinsCG	GRCh37
NC_000021.7:g.44535200_44535201delinsCG	NCBI36
NG_009556.1:g.10010_10011delinsCG , LRG_18:g.10010_10011delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-206_880-205delinsCG MANE Select	ENSP00000291582.5:n.880-206_880-205delinsCG
ENST00000291582.5:c.880-206_880-205delinsCG	ENSP00000291582.5:n.880-206_880-205delinsCG
ENST00000337909.5:n.135_136delinsCG
ENST00000397994.8:n.135_136delinsCG
ENST00000527919.5:n.1613-209_1613-208delinsCG
ENST00000530812.5:n.2630-209_2630-208delinsCG
NM_000383.3:c.880-206_880-205delinsCG	NP_000374.1:n.880-206_880-205delinsCG
XM_011529551.1:c.880-209_880-208delinsCG	XP_011527853.1:n.880-209_880-208delinsCG
NM_000383.4:c.880-206_880-205delinsCG MANE Select	NP_000374.1:n.880-206_880-205delinsCG