Canonical Allele Identifier: CA638115776
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1075801
ClinVar RCV Id: RCV001389498
dbSNP Id: rs1179261094
gnomAD v2: 21-45707435-G-GAGAGCAGCGC
gnomAD v3: 21-44287552-G-GAGAGCAGCGC
gnomAD v4: 21-44287552-G-GAGAGCAGCGC
MyVariant Identifiers: chr21:g.45707435_45707436insAGAGCAGCGC (hg19) chr21:g.44287552_44287553insAGAGCAGCGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287561_44287570dup , CM000683.2:g.44287561_44287570dup GRCh38
NC_000021.8:g.45707444_45707453dup , CM000683.1:g.45707444_45707453dup GRCh37
NC_000021.7:g.44531872_44531881dup NCBI36
NG_009556.1:g.6682_6691dup , LRG_18:g.6682_6691dup

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.508_517dup MANE Select ENSP00000291582.5:p.Gln173ArgfsTer?
ENST00000291582.5:c.508_517dup ENSP00000291582.5:p.Gln173ArgfsTer?
ENST00000527919.5:n.1052_1061dup
ENST00000530812.5:n.1060_1069dup
NM_000383.3:c.508_517dup NP_000374.1:p.Gln173ArgfsTer?
XM_011529551.1:c.508_517dup XP_011527853.1:p.Gln173ArgfsTer?
NM_000383.4:c.508_517dup MANE Select NP_000374.1:p.Gln173ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'