Canonical Allele Identifier: CA2391570517
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296255_44296258delinsGAGC , CM000683.2:g.44296255_44296258delinsGAGC GRCh38
NC_000021.8:g.45716138_45716141delinsGAGC , CM000683.1:g.45716138_45716141delinsGAGC GRCh37
NC_000021.7:g.44540566_44540569delinsGAGC NCBI36
NG_009556.1:g.15376_15379delinsGAGC , LRG_18:g.15376_15379delinsGAGC
NG_034033.1:g.1222_1225delinsGAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1504-128_1504-125delinsGAGC MANE Select ENSP00000291582.5:n.1504-128_1504-125delinsGAGC
ENST00000291582.5:c.1504-128_1504-125delinsGAGC ENSP00000291582.5:n.1504-128_1504-125delinsGAGC
ENST00000337909.5:n.965-128_965-125delinsGAGC
ENST00000397994.8:n.883-128_883-125delinsGAGC
ENST00000527919.5:n.2263-128_2263-125delinsGAGC
ENST00000530812.5:n.3251-128_3251-125delinsGAGC
NM_000383.3:c.1504-128_1504-125delinsGAGC NP_000374.1:n.1504-128_1504-125delinsGAGC
XM_011529551.1:c.1501-128_1501-125delinsGAGC XP_011527853.1:n.1501-128_1501-125delinsGAGC
NM_000383.4:c.1504-128_1504-125delinsGAGC MANE Select NP_000374.1:n.1504-128_1504-125delinsGAGC
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