Canonical Allele Identifier: CA2654789047
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44286937-AACCCTGAGGTTGGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286944_44286957del , CM000683.2:g.44286944_44286957del GRCh38
NC_000021.8:g.45706827_45706840del , CM000683.1:g.45706827_45706840del GRCh37
NC_000021.7:g.44531255_44531268del NCBI36
NG_009556.1:g.6065_6078del , LRG_18:g.6065_6078del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.308-34_308-21del MANE Select ENSP00000291582.5:n.308-34_308-21del
ENST00000291582.5:c.308-34_308-21del ENSP00000291582.5:n.308-34_308-21del
ENST00000527919.5:n.469-34_469-21del
ENST00000530812.5:n.477-34_477-21del
NM_000383.3:c.308-34_308-21del NP_000374.1:n.308-34_308-21del
XM_011529551.1:c.308-34_308-21del XP_011527853.1:n.308-34_308-21del
NM_000383.4:c.308-34_308-21del MANE Select NP_000374.1:n.308-34_308-21del
Search 100 bp 5'
Search 100 bp 3'