Canonical Allele Identifier: CA2654788874
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44286430-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286433del , CM000683.2:g.44286433del GRCh38
NC_000021.8:g.45706316del , CM000683.1:g.45706316del GRCh37
NC_000021.7:g.44530744del NCBI36
NG_009556.1:g.5554del , LRG_18:g.5554del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.133-124del MANE Select ENSP00000291582.5:n.133-124del
ENST00000291582.5:c.133-124del ENSP00000291582.5:n.133-124del
ENST00000527919.5:n.294-124del
ENST00000530812.5:n.302-124del
NM_000383.3:c.133-124del NP_000374.1:n.133-124del
XM_011529551.1:c.133-124del XP_011527853.1:n.133-124del
NM_000383.4:c.133-124del MANE Select NP_000374.1:n.133-124del
Search 100 bp 5'
Search 100 bp 3'