Canonical Allele Identifier: CA2654790006
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44288577-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288579del , CM000683.2:g.44288579del GRCh38
NC_000021.8:g.45708462del , CM000683.1:g.45708462del GRCh37
NC_000021.7:g.44532890del NCBI36
NG_009556.1:g.7700del , LRG_18:g.7700del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+121del MANE Select ENSP00000291582.5:n.652+121del
ENST00000291582.5:c.652+121del ENSP00000291582.5:n.652+121del
ENST00000527919.5:n.1196+121del
ENST00000530812.5:n.1325del
NM_000383.3:c.652+121del NP_000374.1:n.652+121del
XM_011529551.1:c.652+121del XP_011527853.1:n.652+121del
NM_000383.4:c.652+121del MANE Select NP_000374.1:n.652+121del
Search 100 bp 5'
Search 100 bp 3'