Canonical Allele Identifier: CA749676880
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1454071207
gnomAD v3: 21-44287248-C-CT
gnomAD v4: 21-44287248-C-CT
MyVariant Identifiers: chr21:g.45707131_45707132insT (hg19) chr21:g.44287248_44287249insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287249dup , CM000683.2:g.44287249dup GRCh38
NC_000021.8:g.45707132dup , CM000683.1:g.45707132dup GRCh37
NC_000021.7:g.44531560dup NCBI36
NG_009556.1:g.6370dup , LRG_18:g.6370dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.463+116dup MANE Select ENSP00000291582.5:n.463+116dup
ENST00000291582.5:c.463+116dup ENSP00000291582.5:n.463+116dup
ENST00000527919.5:n.740dup
ENST00000530812.5:n.748dup
NM_000383.3:c.463+116dup NP_000374.1:n.463+116dup
XM_011529551.1:c.463+116dup XP_011527853.1:n.463+116dup
NM_000383.4:c.463+116dup MANE Select NP_000374.1:n.463+116dup
Search 100 bp 5'
Search 100 bp 3'