Canonical Allele Identifier: CA2697547569
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2695262
ClinVar RCV Id: RCV003523300
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44296457_44296458del , CM000683.2:g.44296457_44296458del GRCh38
NC_000021.8:g.45716340_45716341del , CM000683.1:g.45716340_45716341del GRCh37
NC_000021.7:g.44540768_44540769del NCBI36
NG_009556.1:g.15578_15579del , LRG_18:g.15578_15579del
NG_034033.1:g.1424_1425del

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.1566+12_1566+13del MANE Select ENSP00000291582.5:n.1566+12_1566+13del
ENST00000291582.5:c.1566+12_1566+13del ENSP00000291582.5:n.1566+12_1566+13del
ENST00000337909.5:n.1027+12_1027+13del
ENST00000397994.8:n.945+12_945+13del
ENST00000527919.5:n.2325+12_2325+13del
ENST00000530812.5:n.3313+12_3313+13del
NM_000383.3:c.1566+12_1566+13del NP_000374.1:n.1566+12_1566+13del
XM_011529551.1:c.1563+12_1563+13del XP_011527853.1:n.1563+12_1563+13del
NM_000383.4:c.1566+12_1566+13del MANE Select NP_000374.1:n.1566+12_1566+13del
Search 100 bp 5'
Search 100 bp 3'