Canonical Allele Identifier: CA2577619944

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290047del , CM000683.2:g.44290047del	GRCh38
NC_000021.8:g.45709930del , CM000683.1:g.45709930del	GRCh37
NC_000021.7:g.44534358del	NCBI36
NG_009556.1:g.9168del , LRG_18:g.9168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.858del MANE Select	ENSP00000291582.5:p.Ser287ValfsTer?
ENST00000291582.5:c.858del	ENSP00000291582.5:p.Ser287ValfsTer?
ENST00000527919.5:n.1591del
ENST00000530812.5:n.2608del
NM_000383.3:c.858del	NP_000374.1:p.Ser287ValfsTer?
XM_011529551.1:c.858del	XP_011527853.1:p.Ser287ValfsTer?
NM_000383.4:c.858del MANE Select	NP_000374.1:p.Ser287ValfsTer?