Canonical Allele Identifier: CA920315957
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1601966568
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289696_44289697insG , CM000683.2:g.44289696_44289697insG GRCh38
NC_000021.8:g.45709579_45709580insG , CM000683.1:g.45709579_45709580insG GRCh37
NC_000021.7:g.44534007_44534008insG NCBI36
NG_009556.1:g.8817_8818insG , LRG_18:g.8817_8818insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.692_693insG MANE Select ENSP00000291582.5:p.Tyr231Ter
ENST00000291582.5:c.692_693insG ENSP00000291582.5:p.Tyr231Ter
ENST00000527919.5:n.1425_1426insG
ENST00000530812.5:n.2442_2443insG
NM_000383.3:c.692_693insG NP_000374.1:p.Tyr231Ter
XM_011529551.1:c.692_693insG XP_011527853.1:p.Tyr231Ter
NM_000383.4:c.692_693insG MANE Select NP_000374.1:p.Tyr231Ter
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