Canonical Allele Identifier: CA638115771
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs1218533820
gnomAD v2: 21-45707371-G-GCCAGGCTGC
gnomAD v4: 21-44287488-G-GCCAGGCTGC
MyVariant Identifiers: chr21:g.45707371_45707372insCCAGGCTGC (hg19) chr21:g.44287488_44287489insCCAGGCTGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287491_44287499dup , CM000683.2:g.44287491_44287499dup GRCh38
NC_000021.8:g.45707374_45707382dup , CM000683.1:g.45707374_45707382dup GRCh37
NC_000021.7:g.44531802_44531810dup NCBI36
NG_009556.1:g.6612_6620dup , LRG_18:g.6612_6620dup

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.464-26_464-18dup MANE Select ENSP00000291582.5:n.464-26_464-18dup
ENST00000291582.5:c.464-26_464-18dup ENSP00000291582.5:n.464-26_464-18dup
ENST00000527919.5:n.982_990dup
ENST00000530812.5:n.990_998dup
NM_000383.3:c.464-26_464-18dup NP_000374.1:n.464-26_464-18dup
XM_011529551.1:c.464-26_464-18dup XP_011527853.1:n.464-26_464-18dup
NM_000383.4:c.464-26_464-18dup MANE Select NP_000374.1:n.464-26_464-18dup
Search 100 bp 5'
Search 100 bp 3'