Canonical Allele Identifier: CA1022714386
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v3: 21-44289688-G-GACCACC
gnomAD v4: 21-44289688-G-GACCACC
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289688_44289689insACCACC , CM000683.2:g.44289688_44289689insACCACC GRCh38
NC_000021.8:g.45709571_45709572insACCACC , CM000683.1:g.45709571_45709572insACCACC GRCh37
NC_000021.7:g.44533999_44534000insACCACC NCBI36
NG_009556.1:g.8809_8810insACCACC , LRG_18:g.8809_8810insACCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.684_685insACCACC MANE Select ENSP00000291582.5:p.Gly228_Glu229insThrThr
ENST00000291582.5:c.684_685insACCACC ENSP00000291582.5:p.Gly228_Glu229insThrThr
ENST00000527919.5:n.1417_1418insACCACC
ENST00000530812.5:n.2434_2435insACCACC
NM_000383.3:c.684_685insACCACC NP_000374.1:p.Gly228_Glu229insThrThr
XM_011529551.1:c.684_685insACCACC XP_011527853.1:p.Gly228_Glu229insThrThr
NM_000383.4:c.684_685insACCACC MANE Select NP_000374.1:p.Gly228_Glu229insThrThr
Search 100 bp 5'
Search 100 bp 3'