Canonical Allele Identifier: CA2654790035
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44292292-ACACGAGCAGTGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44292293_44292304del , CM000683.2:g.44292293_44292304del GRCh38
NC_000021.8:g.45712176_45712187del , CM000683.1:g.45712176_45712187del GRCh37
NC_000021.7:g.44536604_44536615del NCBI36
NG_009556.1:g.11414_11425del , LRG_18:g.11414_11425del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.996-9_998del
ENST00000291582.5:c.996-9_998del
ENST00000337909.5:n.457-9_459del
ENST00000397994.8:n.457-9_459del
ENST00000527919.5:n.1726-9_1728del
ENST00000530812.5:n.2743-9_2745del
NM_000383.3:c.996-9_998del
XM_011529551.1:c.993-9_995del
NM_000383.4:c.996-9_998del
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