Canonical Allele Identifier: CA2654793812
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44290925-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290926del , CM000683.2:g.44290926del GRCh38
NC_000021.8:g.45710809del , CM000683.1:g.45710809del GRCh37
NC_000021.7:g.44535237del NCBI36
NG_009556.1:g.10047del , LRG_18:g.10047del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.880-169del MANE Select ENSP00000291582.5:n.880-169del
ENST00000291582.5:c.880-169del ENSP00000291582.5:n.880-169del
ENST00000337909.5:n.172del
ENST00000397994.8:n.172del
ENST00000527919.5:n.1613-172del
ENST00000530812.5:n.2630-172del
NM_000383.3:c.880-169del NP_000374.1:n.880-169del
XM_011529551.1:c.880-172del XP_011527853.1:n.880-172del
NM_000383.4:c.880-169del MANE Select NP_000374.1:n.880-169del
Search 100 bp 5'
Search 100 bp 3'