Canonical Allele Identifier: CA2391567078

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290203_44290207delinsTTTTC , CM000683.2:g.44290203_44290207delinsTTTTC	GRCh38
NC_000021.8:g.45710086_45710090delinsTTTTC , CM000683.1:g.45710086_45710090delinsTTTTC	GRCh37
NC_000021.7:g.44534514_44534518delinsTTTTC	NCBI36
NG_009556.1:g.9324_9328delinsTTTTC , LRG_18:g.9324_9328delinsTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.879+135_879+139delinsTTTTC MANE Select	ENSP00000291582.5:n.879+135_879+139delinsTTTTC
ENST00000291582.5:c.879+135_879+139delinsTTTTC	ENSP00000291582.5:n.879+135_879+139delinsTTTTC
ENST00000527919.5:n.1612+135_1612+139delinsTTTTC
ENST00000530812.5:n.2629+135_2629+139delinsTTTTC
NM_000383.3:c.879+135_879+139delinsTTTTC	NP_000374.1:n.879+135_879+139delinsTTTTC
XM_011529551.1:c.879+135_879+139delinsTTTTC	XP_011527853.1:n.879+135_879+139delinsTTTTC
NM_000383.4:c.879+135_879+139delinsTTTTC MANE Select	NP_000374.1:n.879+135_879+139delinsTTTTC