Canonical Allele Identifier: CA2654793649
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44290800-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290803del , CM000683.2:g.44290803del GRCh38
NC_000021.8:g.45710686del , CM000683.1:g.45710686del GRCh37
NC_000021.7:g.44535114del NCBI36
NG_009556.1:g.9924del , LRG_18:g.9924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-292del MANE Select ENSP00000291582.5:n.880-292del
ENST00000291582.5:c.880-292del ENSP00000291582.5:n.880-292del
ENST00000337909.5:n.49del
ENST00000397994.8:n.49del
ENST00000527919.5:n.1613-295del
ENST00000530812.5:n.2630-295del
NM_000383.3:c.880-292del NP_000374.1:n.880-292del
XM_011529551.1:c.880-295del XP_011527853.1:n.880-295del
NM_000383.4:c.880-292del MANE Select NP_000374.1:n.880-292del
Search 100 bp 5'
Search 100 bp 3'