Canonical Allele Identifier: CA2654791966
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44289709-GTT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289710_44289711del , CM000683.2:g.44289710_44289711del GRCh38
NC_000021.8:g.45709593_45709594del , CM000683.1:g.45709593_45709594del GRCh37
NC_000021.7:g.44534021_44534022del NCBI36
NG_009556.1:g.8831_8832del , LRG_18:g.8831_8832del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.706_707del MANE Select ENSP00000291582.5:p.Phe236ArgfsTer?
ENST00000291582.5:c.706_707del ENSP00000291582.5:p.Phe236ArgfsTer?
ENST00000527919.5:n.1439_1440del
ENST00000530812.5:n.2456_2457del
NM_000383.3:c.706_707del NP_000374.1:p.Phe236ArgfsTer?
XM_011529551.1:c.706_707del XP_011527853.1:p.Phe236ArgfsTer?
NM_000383.4:c.706_707del MANE Select NP_000374.1:p.Phe236ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'