Canonical Allele Identifier: CA2818038109

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44291058_44291059insCAAACAC , CM000683.2:g.44291058_44291059insCAAACAC	GRCh38
NC_000021.8:g.45710941_45710942insCAAACAC , CM000683.1:g.45710941_45710942insCAAACAC	GRCh37
NC_000021.7:g.44535369_44535370insCAAACAC	NCBI36
NG_009556.1:g.10179_10180insCAAACAC , LRG_18:g.10179_10180insCAAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-37_880-36insCAAACAC MANE Select	ENSP00000291582.5:n.880-37_880-36insCAAACAC
ENST00000291582.5:c.880-37_880-36insCAAACAC	ENSP00000291582.5:n.880-37_880-36insCAAACAC
ENST00000337909.5:n.304_305insCAAACAC
ENST00000397994.8:n.304_305insCAAACAC
ENST00000527919.5:n.1613-40_1613-39insCAAACAC
ENST00000530812.5:n.2630-40_2630-39insCAAACAC
NM_000383.3:c.880-37_880-36insCAAACAC	NP_000374.1:n.880-37_880-36insCAAACAC
XM_011529551.1:c.880-40_880-39insCAAACAC	XP_011527853.1:n.880-40_880-39insCAAACAC
NM_000383.4:c.880-37_880-36insCAAACAC MANE Select	NP_000374.1:n.880-37_880-36insCAAACAC