Canonical Allele Identifier: CA2654789079
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44287191-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287192dup , CM000683.2:g.44287192dup GRCh38
NC_000021.8:g.45707075dup , CM000683.1:g.45707075dup GRCh37
NC_000021.7:g.44531503dup NCBI36
NG_009556.1:g.6313dup , LRG_18:g.6313dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+59dup MANE Select ENSP00000291582.5:n.463+59dup
ENST00000291582.5:c.463+59dup ENSP00000291582.5:n.463+59dup
ENST00000527919.5:n.683dup
ENST00000530812.5:n.691dup
NM_000383.3:c.463+59dup NP_000374.1:n.463+59dup
XM_011529551.1:c.463+59dup XP_011527853.1:n.463+59dup
NM_000383.4:c.463+59dup MANE Select NP_000374.1:n.463+59dup
Search 100 bp 5'
Search 100 bp 3'