Canonical Allele Identifier: CA10051779

Gene: AIRE

Linked Data

• dbSNP Id: rs757987385
• ExAC: 21:45710673 C / CAGGGTT
• gnomAD v2: 21-45710673-C-CAGGGTT
• gnomAD v4: 21-44290790-C-CAGGGTT
• MyVariant Identifiers: chr21:g.45710673_45710674insAGGGTT (hg19) ; chr21:g.44290790_44290791insAGGGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290790_44290791insAGGGTT , CM000683.2:g.44290790_44290791insAGGGTT	GRCh38
NC_000021.8:g.45710673_45710674insAGGGTT , CM000683.1:g.45710673_45710674insAGGGTT	GRCh37
NC_000021.7:g.44535101_44535102insAGGGTT	NCBI36
NG_009556.1:g.9911_9912insAGGGTT , LRG_18:g.9911_9912insAGGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.880-305_880-304insAGGGTT MANE Select	ENSP00000291582.5:n.880-305_880-304insAGGGTT
ENST00000291582.5:c.880-305_880-304insAGGGTT	ENSP00000291582.5:n.880-305_880-304insAGGGTT
ENST00000337909.5:n.36_37insAGGGTT
ENST00000397994.8:n.36_37insAGGGTT
ENST00000527919.5:n.1613-308_1613-307insAGGGTT
ENST00000530812.5:n.2630-308_2630-307insAGGGTT
NM_000383.3:c.880-305_880-304insAGGGTT	NP_000374.1:n.880-305_880-304insAGGGTT
XM_011529551.1:c.880-308_880-307insAGGGTT	XP_011527853.1:n.880-308_880-307insAGGGTT
NM_000383.4:c.880-305_880-304insAGGGTT MANE Select	NP_000374.1:n.880-305_880-304insAGGGTT