Canonical Allele Identifier: CA2577620250
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296481del , CM000683.2:g.44296481del GRCh38
NC_000021.8:g.45716364del , CM000683.1:g.45716364del GRCh37
NC_000021.7:g.44540792del NCBI36
NG_009556.1:g.15602del , LRG_18:g.15602del
NG_034033.1:g.1448del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.1566+36del MANE Select ENSP00000291582.5:n.1566+36del
ENST00000291582.5:c.1566+36del ENSP00000291582.5:n.1566+36del
ENST00000337909.5:n.1027+36del
ENST00000397994.8:n.945+36del
ENST00000527919.5:n.2325+36del
ENST00000530812.5:n.3313+36del
NM_000383.3:c.1566+36del NP_000374.1:n.1566+36del
XM_011529551.1:c.1563+36del XP_011527853.1:n.1563+36del
NM_000383.4:c.1566+36del MANE Select NP_000374.1:n.1566+36del
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