Canonical Allele Identifier: CA2391567538
Gene: AIRE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44291179_44291192delinsTGCCTGTCCCCTCC , CM000683.2:g.44291179_44291192delinsTGCCTGTCCCCTCC GRCh38
NC_000021.8:g.45711062_45711075delinsTGCCTGTCCCCTCC , CM000683.1:g.45711062_45711075delinsTGCCTGTCCCCTCC GRCh37
NC_000021.7:g.44535490_44535503delinsTGCCTGTCCCCTCC NCBI36
NG_009556.1:g.10300_10313delinsTGCCTGTCCCCTCC , LRG_18:g.10300_10313delinsTGCCTGTCCCCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.964_977delinsTGCCTGTCCCCTCC MANE Select ENSP00000291582.5:p.Cys322=
ENST00000291582.5:c.964_977delinsTGCCTGTCCCCTCC ENSP00000291582.5:p.Cys322=
ENST00000337909.5:n.425_438delinsTGCCTGTCCCCTCC
ENST00000397994.8:n.425_438delinsTGCCTGTCCCCTCC
ENST00000527919.5:n.1694_1707delinsTGCCTGTCCCCTCC
ENST00000530812.5:n.2711_2724delinsTGCCTGTCCCCTCC
NM_000383.3:c.964_977delinsTGCCTGTCCCCTCC NP_000374.1:p.Cys322=
XM_011529551.1:c.961_974delinsTGCCTGTCCCCTCC XP_011527853.1:p.Cys321=
NM_000383.4:c.964_977delinsTGCCTGTCCCCTCC MANE Select NP_000374.1:p.Cys322=
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