Canonical Allele Identifier: CA2654788850
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44286410-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286412del , CM000683.2:g.44286412del GRCh38
NC_000021.8:g.45706295del , CM000683.1:g.45706295del GRCh37
NC_000021.7:g.44530723del NCBI36
NG_009556.1:g.5533del , LRG_18:g.5533del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.133-145del MANE Select ENSP00000291582.5:n.133-145del
ENST00000291582.5:c.133-145del ENSP00000291582.5:n.133-145del
ENST00000527919.5:n.294-145del
ENST00000530812.5:n.302-145del
NM_000383.3:c.133-145del NP_000374.1:n.133-145del
XM_011529551.1:c.133-145del XP_011527853.1:n.133-145del
NM_000383.4:c.133-145del MANE Select NP_000374.1:n.133-145del
Search 100 bp 5'
Search 100 bp 3'