Canonical Allele Identifier: CA16621020
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 424080
ClinVar RCV Id: RCV000482743 RCV001201790
dbSNP Id: rs940485051
gnomAD v3: 21-44287554-G-GAGCAGCGCAGAGC
gnomAD v4: 21-44287554-G-GAGCAGCGCAGAGC
MyVariant Identifiers: chr21:g.45707446_45707458dupAGAGCAGCAGCGC (hg19) chr21:g.45707437_45707438insAGCAGCGCAGAGC (hg19) chr21:g.44287563_44287575dupAGAGCAGCAGCGC (hg38) chr21:g.44287554_44287555insAGCAGCGCAGAGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287563_44287575dup , CM000683.2:g.44287563_44287575dup GRCh38
NC_000021.8:g.45707446_45707458dup , CM000683.1:g.45707446_45707458dup GRCh37
NC_000021.7:g.44531874_44531886dup NCBI36
NG_009556.1:g.6684_6696dup , LRG_18:g.6684_6696dup

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.510_522dup MANE Select ENSP00000291582.5:p.Leu175ArgfsTer?
ENST00000291582.5:c.510_522dup ENSP00000291582.5:p.Leu175ArgfsTer?
ENST00000527919.5:n.1054_1066dup
ENST00000530812.5:n.1062_1074dup
NM_000383.3:c.510_522dup NP_000374.1:p.Leu175ArgfsTer?
XM_011529551.1:c.510_522dup XP_011527853.1:p.Leu175ArgfsTer?
NM_000383.4:c.510_522dup MANE Select NP_000374.1:p.Leu175ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'