Canonical Allele Identifier: CA2391565170
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286564_44286567delinsTTCA , CM000683.2:g.44286564_44286567delinsTTCA GRCh38
NC_000021.8:g.45706447_45706450delinsTTCA , CM000683.1:g.45706447_45706450delinsTTCA GRCh37
NC_000021.7:g.44530875_44530878delinsTTCA NCBI36
NG_009556.1:g.5685_5688delinsTTCA , LRG_18:g.5685_5688delinsTTCA

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.140_143delinsTTCA MANE Select ENSP00000291582.5:p.Leu47=
ENST00000291582.5:c.140_143delinsTTCA ENSP00000291582.5:p.Leu47=
ENST00000527919.5:n.301_304delinsTTCA
ENST00000530812.5:n.309_312delinsTTCA
NM_000383.3:c.140_143delinsTTCA NP_000374.1:p.Leu47=
XM_011529551.1:c.140_143delinsTTCA XP_011527853.1:p.Leu47=
NM_000383.4:c.140_143delinsTTCA MANE Select NP_000374.1:p.Leu47=
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