Canonical Allele Identifier: CA2654789879
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44288472-C-CGGGGAGAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288477_44288484dup , CM000683.2:g.44288477_44288484dup GRCh38
NC_000021.8:g.45708360_45708367dup , CM000683.1:g.45708360_45708367dup GRCh37
NC_000021.7:g.44532788_44532795dup NCBI36
NG_009556.1:g.7598_7605dup , LRG_18:g.7598_7605dup

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.652+19_652+26dup MANE Select ENSP00000291582.5:n.652+19_652+26dup
ENST00000291582.5:c.652+19_652+26dup ENSP00000291582.5:n.652+19_652+26dup
ENST00000527919.5:n.1196+19_1196+26dup
ENST00000530812.5:n.1223_1230dup
NM_000383.3:c.652+19_652+26dup NP_000374.1:n.652+19_652+26dup
XM_011529551.1:c.652+19_652+26dup XP_011527853.1:n.652+19_652+26dup
NM_000383.4:c.652+19_652+26dup MANE Select NP_000374.1:n.652+19_652+26dup
Search 100 bp 5'
Search 100 bp 3'