Canonical Allele Identifier: CA2654789220
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44287330-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287334del , CM000683.2:g.44287334del GRCh38
NC_000021.8:g.45707217del , CM000683.1:g.45707217del GRCh37
NC_000021.7:g.44531645del NCBI36
NG_009556.1:g.6455del , LRG_18:g.6455del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.464-183del MANE Select ENSP00000291582.5:n.464-183del
ENST00000291582.5:c.464-183del ENSP00000291582.5:n.464-183del
ENST00000527919.5:n.825del
ENST00000530812.5:n.833del
NM_000383.3:c.464-183del NP_000374.1:n.464-183del
XM_011529551.1:c.464-183del XP_011527853.1:n.464-183del
NM_000383.4:c.464-183del MANE Select NP_000374.1:n.464-183del
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Search 100 bp 3'