Canonical Allele Identifier: CA2391568133
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292309_44292310delinsTG , CM000683.2:g.44292309_44292310delinsTG GRCh38
NC_000021.8:g.45712192_45712193delinsTG , CM000683.1:g.45712192_45712193delinsTG GRCh37
NC_000021.7:g.44536620_44536621delinsTG NCBI36
NG_009556.1:g.11430_11431delinsTG , LRG_18:g.11430_11431delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1003_1004delinsTG MANE Select ENSP00000291582.5:p.Trp335=
ENST00000291582.5:c.1003_1004delinsTG ENSP00000291582.5:p.Trp335=
ENST00000337909.5:n.464_465delinsTG
ENST00000397994.8:n.464_465delinsTG
ENST00000527919.5:n.1733_1734delinsTG
ENST00000530812.5:n.2750_2751delinsTG
NM_000383.3:c.1003_1004delinsTG NP_000374.1:p.Trp335=
XM_011529551.1:c.1000_1001delinsTG XP_011527853.1:p.Trp334=
NM_000383.4:c.1003_1004delinsTG MANE Select NP_000374.1:p.Trp335=
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