Canonical Allele Identifier: CA749679242
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1488694234
gnomAD v3: 21-44289740-G-GCC
gnomAD v4: 21-44289740-G-GCC
MyVariant Identifiers: chr21:g.45709623_45709624insCC (hg19) chr21:g.44289740_44289741insCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289742_44289743dup , CM000683.2:g.44289742_44289743dup GRCh38
NC_000021.8:g.45709625_45709626dup , CM000683.1:g.45709625_45709626dup GRCh37
NC_000021.7:g.44534053_44534054dup NCBI36
NG_009556.1:g.8863_8864dup , LRG_18:g.8863_8864dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.738_739dup MANE Select ENSP00000291582.5:p.Arg247ProfsTer?
ENST00000291582.5:c.738_739dup ENSP00000291582.5:p.Arg247ProfsTer?
ENST00000527919.5:n.1471_1472dup
ENST00000530812.5:n.2488_2489dup
NM_000383.3:c.738_739dup NP_000374.1:p.Arg247ProfsTer?
XM_011529551.1:c.738_739dup XP_011527853.1:p.Arg247ProfsTer?
NM_000383.4:c.738_739dup MANE Select NP_000374.1:p.Arg247ProfsTer?
Search 100 bp 5'
Search 100 bp 3'