Canonical Allele Identifier: CA2577620043

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44291005del , CM000683.2:g.44291005del	GRCh38
NC_000021.8:g.45710888del , CM000683.1:g.45710888del	GRCh37
NC_000021.7:g.44535316del	NCBI36
NG_009556.1:g.10126del , LRG_18:g.10126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-90del MANE Select	ENSP00000291582.5:n.880-90del
ENST00000291582.5:c.880-90del	ENSP00000291582.5:n.880-90del
ENST00000337909.5:n.251del
ENST00000397994.8:n.251del
ENST00000527919.5:n.1613-93del
ENST00000530812.5:n.2630-93del
NM_000383.3:c.880-90del	NP_000374.1:n.880-90del
XM_011529551.1:c.880-93del	XP_011527853.1:n.880-93del
NM_000383.4:c.880-90del MANE Select	NP_000374.1:n.880-90del