Canonical Allele Identifier: CA2391570523
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296264_44296266delinsGTA , CM000683.2:g.44296264_44296266delinsGTA GRCh38
NC_000021.8:g.45716147_45716149delinsGTA , CM000683.1:g.45716147_45716149delinsGTA GRCh37
NC_000021.7:g.44540575_44540577delinsGTA NCBI36
NG_009556.1:g.15385_15387delinsGTA , LRG_18:g.15385_15387delinsGTA
NG_034033.1:g.1231_1233delinsGTA

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1504-119_1504-117delinsGTA MANE Select ENSP00000291582.5:n.1504-119_1504-117delinsGTA
ENST00000291582.5:c.1504-119_1504-117delinsGTA ENSP00000291582.5:n.1504-119_1504-117delinsGTA
ENST00000337909.5:n.965-119_965-117delinsGTA
ENST00000397994.8:n.883-119_883-117delinsGTA
ENST00000527919.5:n.2263-119_2263-117delinsGTA
ENST00000530812.5:n.3251-119_3251-117delinsGTA
NM_000383.3:c.1504-119_1504-117delinsGTA NP_000374.1:n.1504-119_1504-117delinsGTA
XM_011529551.1:c.1501-119_1501-117delinsGTA XP_011527853.1:n.1501-119_1501-117delinsGTA
NM_000383.4:c.1504-119_1504-117delinsGTA MANE Select NP_000374.1:n.1504-119_1504-117delinsGTA