Canonical Allele Identifier: CA2391568105
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs2040548547
gnomAD v4: 21-44292246-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292247del , CM000683.2:g.44292247del GRCh38
NC_000021.8:g.45712130del , CM000683.1:g.45712130del GRCh37
NC_000021.7:g.44536558del NCBI36
NG_009556.1:g.11368del , LRG_18:g.11368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.996-55del MANE Select ENSP00000291582.5:n.996-55del
ENST00000291582.5:c.996-55del ENSP00000291582.5:n.996-55del
ENST00000337909.5:n.457-55del
ENST00000397994.8:n.457-55del
ENST00000527919.5:n.1726-55del
ENST00000530812.5:n.2743-55del
NM_000383.3:c.996-55del NP_000374.1:n.996-55del
XM_011529551.1:c.993-55del XP_011527853.1:n.993-55del
NM_000383.4:c.996-55del MANE Select NP_000374.1:n.996-55del
Search 100 bp 5'
Search 100 bp 3'