Canonical Allele Identifier: CA10051694
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs759203576
ExAC: 21:45709626 CGCA / C
gnomAD v2: 21-45709626-CGCA-C
gnomAD v4: 21-44289743-CGCA-C
MyVariant Identifiers: chr21:g.45709627_45709629del (hg19) chr21:g.44289744_44289746del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289751_44289753del , CM000683.2:g.44289751_44289753del GRCh38
NC_000021.8:g.45709634_45709636del , CM000683.1:g.45709634_45709636del GRCh37
NC_000021.7:g.44534062_44534064del NCBI36
NG_009556.1:g.8872_8874del , LRG_18:g.8872_8874del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.747_749del MANE Select ENSP00000291582.5:p.Ser250del
ENST00000291582.5:c.747_749del ENSP00000291582.5:p.Ser250del
ENST00000527919.5:n.1480_1482del
ENST00000530812.5:n.2497_2499del
NM_000383.3:c.747_749del NP_000374.1:p.Ser250del
XM_011529551.1:c.747_749del XP_011527853.1:p.Ser250del
NM_000383.4:c.747_749del MANE Select NP_000374.1:p.Ser250del
Search 100 bp 5'
Search 100 bp 3'