Canonical Allele Identifier: CA749677742
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1225071040
MyVariant Identifiers: chr21:g.45708143_45708146del (hg19) chr21:g.44288260_44288263del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288260_44288263del , CM000683.2:g.44288260_44288263del GRCh38
NC_000021.8:g.45708143_45708146del , CM000683.1:g.45708143_45708146del GRCh37
NC_000021.7:g.44532571_44532574del NCBI36
NG_009556.1:g.7381_7384del , LRG_18:g.7381_7384del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.539-85_539-82del MANE Select ENSP00000291582.5:n.539-85_539-82del
ENST00000291582.5:c.539-85_539-82del ENSP00000291582.5:n.539-85_539-82del
ENST00000527919.5:n.1083-85_1083-82del
ENST00000530812.5:n.1091-85_1091-82del
NM_000383.3:c.539-85_539-82del NP_000374.1:n.539-85_539-82del
XM_011529551.1:c.539-85_539-82del XP_011527853.1:n.539-85_539-82del
NM_000383.4:c.539-85_539-82del MANE Select NP_000374.1:n.539-85_539-82del
Search 100 bp 5'
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