Canonical Allele Identifier: CA2577620093

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292409del , CM000683.2:g.44292409del	GRCh38
NC_000021.8:g.45712292del , CM000683.1:g.45712292del	GRCh37
NC_000021.7:g.44536720del	NCBI36
NG_009556.1:g.11530del , LRG_18:g.11530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.1095+8del MANE Select	ENSP00000291582.5:n.1095+8del
ENST00000291582.5:c.1095+8del	ENSP00000291582.5:n.1095+8del
ENST00000337909.5:n.556+8del
ENST00000397994.8:n.556+8del
ENST00000527919.5:n.1825+8del
ENST00000530812.5:n.2842+8del
NM_000383.3:c.1095+8del	NP_000374.1:n.1095+8del
XM_011529551.1:c.1092+8del	XP_011527853.1:n.1092+8del
NM_000383.4:c.1095+8del MANE Select	NP_000374.1:n.1095+8del