Canonical Allele Identifier: CA116139

Gene: AIRE

Linked Data

• ClinVar Variation Id: 3309
• ClinVar RCV Id: RCV000003473 ; RCV000049635 ; RCV000284330 ; RCV003407265
• dbSNP Id: rs386833675
• ExAC: 21:45711062 TGCCTGTCCCCTCC / T
• gnomAD v2: 21-45711062-TGCCTGTCCCCTCC-T
• gnomAD v3: 21-44291179-TGCCTGTCCCCTCC-T
• gnomAD v4: 21-44291179-TGCCTGTCCCCTCC-T
• MyVariant Identifiers: chr21:g.45711065_45711077del (hg19) ; chr21:g.45711063_45711075del (hg19) ; chr21:g.44291182_44291194del (hg38) ; chr21:g.44291181_44291193del (hg38) ; chr21:g.44291180_44291192del (hg38)
• PubMed: PMID:6031738 ; PMID:9398840 ; PMID:9837820 ; PMID:9888391 ; PMID:9921903 ; PMID:10677297 ; PMID:10720083 ; PMID:11524731 ; PMID:12050215 ; PMID:14557425 ; PMID:17118990 ; PMID:17220063 ; PMID:17539912 ; PMID:19807739 ; PMID:21295522

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44291182_44291194del , CM000683.2:g.44291182_44291194del	GRCh38
NC_000021.8:g.45711065_45711077del , CM000683.1:g.45711065_45711077del	GRCh37
NC_000021.7:g.44535493_44535505del	NCBI36
NG_009556.1:g.10303_10315del , LRG_18:g.10303_10315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.967_979del MANE Select	ENSP00000291582.5:p.Leu323SerfsTer?
ENST00000291582.5:c.967_979del	ENSP00000291582.5:p.Leu323SerfsTer?
ENST00000337909.5:n.428_440del
ENST00000397994.8:n.428_440del
ENST00000527919.5:n.1697_1709del
ENST00000530812.5:n.2714_2726del
NM_000383.3:c.967_979del	NP_000374.1:p.Leu323SerfsTer?
XM_011529551.1:c.964_976del	XP_011527853.1:p.Leu322SerfsTer?
NM_000383.4:c.967_979del MANE Select	NP_000374.1:p.Leu323SerfsTer?