Canonical Allele Identifier: CA2573157691
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1384493
ClinVar RCV Id: RCV001896042
dbSNP Id: rs2146379169
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289684_44289685delinsAT , CM000683.2:g.44289684_44289685delinsAT GRCh38
NC_000021.8:g.45709567_45709568delinsAT , CM000683.1:g.45709567_45709568delinsAT GRCh37
NC_000021.7:g.44533995_44533996delinsAT NCBI36
NG_009556.1:g.8805_8806delinsAT , LRG_18:g.8805_8806delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.680_681delinsAT MANE Select ENSP00000291582.5:p.Gly227Asp
ENST00000291582.5:c.680_681delinsAT ENSP00000291582.5:p.Gly227Asp
ENST00000527919.5:n.1413_1414delinsAT
ENST00000530812.5:n.2430_2431delinsAT
NM_000383.3:c.680_681delinsAT NP_000374.1:p.Gly227Asp
XM_011529551.1:c.680_681delinsAT XP_011527853.1:p.Gly227Asp
NM_000383.4:c.680_681delinsAT MANE Select NP_000374.1:p.Gly227Asp
Search 100 bp 5'
Search 100 bp 3'