Canonical Allele Identifier: CA920315908
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1601964837
gnomAD v4: 21-44287226-ACTGGGTGTGGGGC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287228_44287240del , CM000683.2:g.44287228_44287240del GRCh38
NC_000021.8:g.45707111_45707123del , CM000683.1:g.45707111_45707123del GRCh37
NC_000021.7:g.44531539_44531551del NCBI36
NG_009556.1:g.6349_6361del , LRG_18:g.6349_6361del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+95_463+107del MANE Select ENSP00000291582.5:n.463+95_463+107del
ENST00000291582.5:c.463+95_463+107del ENSP00000291582.5:n.463+95_463+107del
ENST00000527919.5:n.719_731del
ENST00000530812.5:n.727_739del
NM_000383.3:c.463+95_463+107del NP_000374.1:n.463+95_463+107del
XM_011529551.1:c.463+95_463+107del XP_011527853.1:n.463+95_463+107del
NM_000383.4:c.463+95_463+107del MANE Select NP_000374.1:n.463+95_463+107del
Search 100 bp 5'
Search 100 bp 3'